Allele Registry

Canonical Allele Identifier: PA916031799

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000205555

RCV000218923

RCV001778794

ClinVar Variation:

220272

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Asn504Ser	CA349700 NM_001351834.2:c.1511A>G