Allele Registry

Canonical Allele Identifier: PA916033644

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115217

RCV000167876

RCV000223979

RCV000515219

RCV000780923

RCV001293033

RCV003149795

ClinVar Variation:

127412

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Val1941Leu	CA286904 NM_001351834.2:c.5821G>C