Canonical Allele Identifier: PA916034029
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 181981
ClinVar RCV Id: RCV000159749 RCV000196419 RCV000212048 RCV000762827 RCV002288675 RCV001255479
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Arg2227Cys
CA298317
NM_001351834.2:c.6679C>T