Allele Registry

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.

Canonical Allele Identifier: CA290864569

Gene:

Linked Data

dbSNP Id: rs567576275 rs2151400634

gnomAD v3: 17-43952723-A-G

gnomAD v4: 17-43952723-A-G

MyVariant Identifiers: chr17:g.42030091A>G (hg19) chr17:g.43952723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43952723A>G , CM000679.2:g.43952723A>G	GRCh38
NC_000017.10:g.42030091A>G , CM000679.1:g.42030091A>G	GRCh37
NC_000017.9:g.39385617A>G	NCBI36
NG_023338.1:g.56747T>C

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