Allele Registry

Canonical Allele Identifier: PA166230

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000130342

RCV001242207

ClinVar Variation:

141721

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Thr1953Ile	CA166228 NM_000051.4:c.5858C>T