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: PA916034563

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 422430

ClinVar RCV Id: RCV000486497 RCV002420235 RCV003605626

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gln2651Lys	CA16619244 NM_001351834.2:c.7951C>A