Allele Registry

Canonical Allele Identifier: PA2827630084

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000222411

RCV000627984

RCV002265695

ClinVar Variation:

233820

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338764.1:p.Asp58Tyr	CA10578947 NM_001351835.2:c.172G>T