Allele Registry

Canonical Allele Identifier: PA916032494

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000131127

RCV000205686

RCV000585220

RCV001328457

ClinVar Variation:

142162

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Met1006Val	CA167648 NM_001351834.2:c.3016A>G