Allele Registry

Canonical Allele Identifier: PA293990

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000129166

RCV000195721

RCV000656762

RCV001192416

RCV003460890

RCV004551240

ClinVar Variation:

140910

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Met2531Thr	CA293988 NM_000051.4:c.7592T>C