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: CA2596113523

Gene:

Linked Data

dbSNP Id: rs2141988076

gnomAD v3: 16-56960697-T-C

gnomAD v4: 16-56960697-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56960697T>C , CM000678.2:g.56960697T>C	GRCh38
NC_000016.9:g.56994609T>C , CM000678.1:g.56994609T>C	GRCh37
NC_000016.8:g.55552110T>C	NCBI36
NG_008952.1:g.3775T>C

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