Allele Registry

Canonical Allele Identifier: PA645500794

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000472701

RCV002451102

RCV003470431

ClinVar Variation:

407646

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Pro795Ser	CA16613089 NM_000051.4:c.2383C>T