Allele Registry

Canonical Allele Identifier: PA916031984

Gene: ATM HGNC NCBI

ClinVar Allele:

212849

ClinVar RCV:

RCV000195774

RCV000221613

RCV000479071

RCV000780905

RCV003474956

ClinVar Variation:

216193

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val648Ala	CA335930 NM_001351834.2:c.1943T>C