Allele Registry

Canonical Allele Identifier: PA645499975

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000469083

RCV001011533

RCV001558594

RCV003463891

ClinVar Variation:

407702

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Cys489Phe	CA6264817 NM_000051.4:c.1466G>T