Allele Registry

Canonical Allele Identifier: PA645500193

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000230533

RCV000575956

RCV001174987

RCV001770186

RCV001798728

ClinVar Variation:

236676

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr548Ala	CA10582796 NM_000051.4:c.1642A>G