Canonical Allele Identifier: PA916032892
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133618
ClinVar RCV Id: RCV000120136 RCV000129195 RCV000657024 RCV001355120 RCV001079506 RCV004551178 RCV003492517
ClinVar Variation Id: 1590196
ClinVar RCV Id: RCV002107358
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Met1321Ile
CA157113
NM_001351834.2:c.3963G>A
CA382526091
NM_001351834.2:c.3963G>C
CA382526098
NM_001351834.2:c.3963G>T