Allele Registry

Canonical Allele Identifier: PA298030

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000159641

RCV000199822

RCV000212047

RCV000764938

RCV000766519

RCV001798542

RCV003462068

ClinVar Variation:

181882

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Tyr2202Asp	CA298028 NM_000051.4:c.6604T>G