Allele Registry

Canonical Allele Identifier: PA194930

Gene: ATM HGNC NCBI

ClinVar Allele:

183380

ClinVar RCV:

RCV000166076

RCV000236581

RCV000463701

RCV001257490

RCV002509268

ClinVar Variation:

186475

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2379Val	CA194928 NM_000051.4:c.7135C>G