Allele Registry

Canonical Allele Identifier: PA645500112

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000220780

RCV001318667

ClinVar Variation:

230581

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr528Ala	CA10579015 NM_000051.4:c.1582A>G