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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1125398587
Gene: ALDH1A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs6151031
gnomAD v3:
9-72953467-G-GCTGGTGAGGAGAGAACA
gnomAD v4:
9-72953467-G-GCTGGTGAGGAGAGAACA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.72953471_72953472insTGAGGAGAGAACACTGG , CM000671.2:g.72953471_72953472insTGAGGAGAGAACACTGG
GRCh38
NC_000009.11:g.75568387_75568388insTGAGGAGAGAACACTGG , CM000671.1:g.75568387_75568388insTGAGGAGAGAACACTGG
GRCh37
NC_000009.10:g.74758207_74758208insTGAGGAGAGAACACTGG
NCBI36
NG_012249.1:g.4586_4587insTGTTCTCTCCTCACCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000419959.5:c.-14-454_-14-453insTGTTCTCTCCTCACCAG
ENSP00000388026.1:n.-14-454_-14-453insTGT...
ENST00000446946.1:c.-14-454_-14-453insTGTTCTCTCCTCACCAG
ENSP00000401361.1:n.-14-454_-14-453insTGT...
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