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: CA1099625385

Gene:

Linked Data

dbSNP Id: rs59942729

gnomAD v3: 7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTTT

gnomAD v4: 7-27298260-C-CTTTTTTTTTTTTTTTTTTTTTTTTTT

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.2:g.27298282_27298283insTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000007.13:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000669.1:g.27337901_27337902insTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000007.12:g.27304426_27304427insTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36

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