Allele Registry

Canonical Allele Identifier: PA916032280

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000780907

RCV001016001

RCV001275695

ClinVar Variation:

633058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asp860His	CA382543918 NM_001351834.2:c.2578G>C