Allele Registry

Canonical Allele Identifier: PA916031315

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000122853

RCV000219862

RCV000436828

ClinVar Variation:

135756

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gln161Pro	CA332336 NM_001351834.2:c.482A>C