Allele Registry

Canonical Allele Identifier: PA2580203823

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV003025026

ClinVar Variation:

2120189

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ser1250Phe	CA382524197 NM_001351834.2:c.3749C>T