Allele Registry

Canonical Allele Identifier: PA298039

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122880

RCV000159644

RCV000588200

RCV001250436

RCV001824286

ClinVar Variation:

135776

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ala2274Thr	CA298037 NM_000051.4:c.6820G>A