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: CA1059229655

Gene:

Linked Data

dbSNP Id: rs1714441193

gnomAD v3: 4-10124248-T-TGTA

gnomAD v4: 4-10124248-T-TGTA

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.10124249_10124250insTAG , CM000666.2:g.10124249_10124250insTAG	GRCh38
NC_000004.11:g.10125873_10125874insTAG , CM000666.1:g.10125873_10125874insTAG	GRCh37
NC_000004.10:g.9734971_9734972insTAG	NCBI36

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