Allele Registry

Canonical Allele Identifier: PA916033894

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122871

RCV000131258

RCV000589612

RCV001293417

RCV001356310

RCV003467085

RCV004551200

ClinVar Variation:

135767

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg2105Ser	CA167882 NM_001351834.2:c.6315G>C CA382552179 NM_001351834.2:c.6315G>T