Allele Registry

Canonical Allele Identifier: PA190614

Gene: ATM HGNC NCBI

ClinVar Allele:

183304

ClinVar RCV:

RCV000164315

RCV000228294

RCV000994709

RCV003474856

ClinVar Variation:

184966

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Arg1618Gln	CA190612 NM_000051.4:c.4853G>A