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: CA945494938

Gene:

Linked Data

gnomAD v3: 12-21249951-G-GTTTTTTTTTTTTTTT

gnomAD v4: 12-21249951-G-GTTTTTTTTTTTTTTT

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21249952_21249953insTTTTTTTTTTTTTTT , CM000674.2:g.21249952_21249953insTTTTTTTTTTTTTTT	GRCh38
NC_000012.11:g.21402886_21402887insTTTTTTTTTTTTTTT , CM000674.1:g.21402886_21402887insTTTTTTTTTTTTTTT	GRCh37
NC_000012.10:g.21294153_21294154insTTTTTTTTTTTTTTT	NCBI36

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