Allele Registry

Canonical Allele Identifier: PA168196

Gene: ATM HGNC NCBI

ClinVar RCV:

RCV000131464

RCV000198515

RCV000479519

RCV002469022

ClinVar Variation:

142378

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Asp2785Asn	CA168194 NM_000051.4:c.8353G>A