Allele Registry

Canonical Allele Identifier: PA286996

Gene: ATM HGNC NCBI

ClinVar Allele:

132905

ClinVar RCV:

RCV000115254

RCV000205594

RCV000589821

RCV000855570

RCV003153367

RCV004549572

ClinVar Variation:

127448

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2580Ser	CA286994 NM_000051.4:c.7740A>C CA382561122 NM_000051.4:c.7740A>T