Allele Registry

Canonical Allele Identifier: PA645500657

Gene: ATM HGNC NCBI

ClinVar Allele:

259954

ClinVar RCV:

RCV000255958

RCV002429195

RCV002521852

ClinVar Variation:

265336

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Val716Asp	CA10588493 NM_000051.4:c.2147T>A