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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
Allele Registry
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Canonical Allele Identifier:
CA636037258
Gene:
Linked Data
dbSNP Id:
rs1340996982
gnomAD v2:
20-44635938-C-CATCTTTG
gnomAD v3:
20-46007299-C-CATCTTTG
gnomAD v4:
20-46007299-C-CATCTTTG
MyVariant Identifiers:
chr20:g.44635938_44635939insATCTTTG (hg19)
chr20:g.46007299_46007300insATCTTTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46007299_46007300insATCTTTG , CM000682.2:g.46007299_46007300insATCTTTG
GRCh38
NC_000020.10:g.44635938_44635939insATCTTTG , CM000682.1:g.44635938_44635939insATCTTTG
GRCh37
NC_000020.9:g.44069345_44069346insATCTTTG
NCBI36
NG_011468.1:g.3392_3393insATCTTTG
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