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: PA916032168

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 821224

ClinVar RCV Id: RCV001015424 RCV001364965

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly801Asp	CA382541143 NM_001351834.2:c.2402G>A