Allele Registry

Canonical Allele Identifier: PA916032576

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000561731

RCV001054716

RCV003222048

ClinVar Variation:

485239

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys1066Gln	CA382515718 NM_001351834.2:c.3196A>C