Allele Registry

Canonical Allele Identifier: PA167653

Gene: ATM HGNC NCBI

ClinVar Allele:

151878

ClinVar RCV:

RCV000131129

RCV000484990

RCV001035231

ClinVar Variation:

142164

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu1991Asp	CA167651 NM_000051.4:c.5973A>C CA382548740 NM_000051.4:c.5973A>T