Allele Registry

Canonical Allele Identifier: PA658673458

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000529387

RCV000561643

ClinVar Variation:

453592

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ala188Ser	CA382527774 NM_000051.4:c.562G>T