Allele Registry

Canonical Allele Identifier: PA194918

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166071

RCV000197254

RCV000590355

RCV001255212

RCV003474873

ClinVar Variation:

186471

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp44Gly	CA194916 NM_000051.4:c.131A>G