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: CA1047835745

Gene:

Linked Data

dbSNP Id: rs1702545339

gnomAD v3: 3-50314720-C-T

gnomAD v4: 3-50314720-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50314720C>T , CM000665.2:g.50314720C>T	GRCh38
NC_000003.11:g.50352151C>T , CM000665.1:g.50352151C>T	GRCh37
NC_000003.10:g.50327155C>T	NCBI36
NG_009295.1:g.2662G>A

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