Allele Registry

Canonical Allele Identifier: PA189947

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000164063

RCV000168071

RCV000219263

RCV000780902

RCV003150012

RCV003316015

RCV003483533

ClinVar Variation:

184752

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg692Cys	CA189945 NM_000051.4:c.2074C>T