Allele Registry

Canonical Allele Identifier: PA2827629049

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000479184

RCV000535900

RCV000775870

ClinVar Variation:

422792

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile40Val	CA16619094 NM_001351834.2:c.118A>G