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: CA981532908

Gene:

Linked Data

dbSNP Id: rs1597514777

gnomAD v3: 17-12144244-T-G

gnomAD v4: 17-12144244-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12144244T>G , CM000679.2:g.12144244T>G	GRCh38
NC_000017.10:g.12047561T>G , CM000679.1:g.12047561T>G	GRCh37
NC_000017.9:g.11988286T>G	NCBI36
NG_033952.1:g.128427T>G

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