Allele Registry

Canonical Allele Identifier: PA916033220

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000166063

RCV000548784

RCV002337752

ClinVar Variation:

186464

1742998

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Glu1592Asp	CA194897 NM_001351834.2:c.4776G>C CA382535223 NM_001351834.2:c.4776G>T