Allele Registry

Canonical Allele Identifier: PA916032568

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000115172

RCV000211995

RCV000465718

RCV000515253

RCV000779787

RCV001249849

RCV003467024

ClinVar Variation:

127367

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ala1059Thr	CA204829 NM_001351834.2:c.3175G>A