Allele Registry

Canonical Allele Identifier: PA916033188

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129059

RCV000530097

RCV000587733

ClinVar Variation:

140851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Tyr1556His	CA163737 NM_001351834.2:c.4666T>C