Allele Registry

Canonical Allele Identifier: PA916032042

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000228332

RCV001014336

RCV003343712

ClinVar Variation:

236682

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg692His	CA6264924 NM_001351834.2:c.2075G>A