Allele Registry

Canonical Allele Identifier: PA157067

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000120117

RCV000128892

RCV000205062

RCV000224104

RCV002225356

RCV002492416

RCV003149818

RCV003315722

ClinVar Variation:

133604

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu546Val	CA157065 NM_000051.4:c.1636C>G