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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:
CA1126798869
Gene:
Linked Data
dbSNP Id:
rs1854849088
gnomAD v3:
9-92797201-GAC-G
gnomAD v4:
9-92797201-GAC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.92797202_92797203del , CM000671.2:g.92797202_92797203del
GRCh38
NC_000009.11:g.95559484_95559485del , CM000671.1:g.95559484_95559485del
GRCh37
NC_000009.10:g.94599305_94599306del
NCBI36
Search 100 bp 5'
Search 100 bp 3'