Canonical Allele Identifier: PA916033766
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 181974
ClinVar RCV Id: RCV000159742 RCV000167946 RCV000212037 RCV000709711 RCV000762824 RCV001391204 RCV001706063 RCV001657897 RCV003162671 RCV004551374
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Arg2032Lys
CA298296
NM_001351834.2:c.6095G>A