Allele Registry

Canonical Allele Identifier: PA916033815

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122869

RCV000131768

RCV000212041

RCV000779793

ClinVar Variation:

135765

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg2060His	CA294446 NM_001351834.2:c.6179G>A