Allele Registry

Canonical Allele Identifier: PA916035246

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000222655

RCV000590630

RCV003105829

ClinVar Variation:

232904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338765.1:p.Pro80Ser	CA6264539 NM_001351836.2:c.238C>T