Allele Registry

Canonical Allele Identifier: PA916031619

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000484516

RCV001009898

RCV002431396

RCV003605622

ClinVar Variation:

419368

818368

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gln368His	CA16619106 NM_001351834.2:c.1104A>C CA382532392 NM_001351834.2:c.1104A>T