Allele Registry

Canonical Allele Identifier: PA916032530

Gene: ATM HGNC NCBI

ClinVar Allele:

180434

ClinVar RCV:

RCV000159705

RCV000234598

RCV001180649

ClinVar Variation:

181938

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Thr1029Ser	CA298194 NM_001351834.2:c.3085A>T