Allele Registry

Canonical Allele Identifier: PA916031501

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000570159

RCV000627865

RCV003328603

ClinVar Variation:

481079

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu282Phe	CA6264684 NM_001351834.2:c.846A>T CA382529470 NM_001351834.2:c.846A>C