Allele Registry

Canonical Allele Identifier: PA165595

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000130042

RCV000442870

RCV000700863

ClinVar Variation:

141488

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu1277Asp	CA165593 NM_000051.4:c.3831G>C CA382524964 NM_000051.4:c.3831G>T