Allele Registry

Canonical Allele Identifier: PA287014

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115262

RCV000232453

RCV000586113

RCV000764949

RCV001257471

RCV001798327

RCV001818260

ClinVar Variation:

127456

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg2719His	CA287012 NM_000051.4:c.8156G>A