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: CA1015120248

Gene:

Linked Data

dbSNP Id: rs1986614421

gnomAD v3: 20-6781148-T-G

gnomAD v4: 20-6781148-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6781148T>G , CM000682.2:g.6781148T>G	GRCh38
NC_000020.10:g.6761795T>G , CM000682.1:g.6761795T>G	GRCh37
NC_000020.9:g.6709795T>G	NCBI36
NG_023233.1:g.18051T>G

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