Canonical Allele Identifier: PA168196
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142378
ClinVar RCV Id: RCV000131464 RCV000198515 RCV000479519 RCV002469022
JSON-LD

Amino-acid Alleles

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