Allele Registry

Canonical Allele Identifier: PA916031409

Gene: ATM HGNC NCBI

ClinVar Allele:

137378

ClinVar RCV:

RCV000120164

RCV000217843

RCV000472458

RCV000657028

RCV003467071

RCV004551181

ClinVar Variation:

133639

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Ile217Val	CA157189 NM_001351834.2:c.649A>G