Allele Registry

Canonical Allele Identifier: PA356395

Gene: ATM HGNC NCBI

ClinVar Allele:

222103

ClinVar RCV:

RCV000206774

RCV000216900

RCV000588892

RCV000763709

RCV001268980

ClinVar Variation:

220531

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ser2168Leu	CA350774 NM_000051.4:c.6503C>T