Canonical Allele Identifier: PA916032017
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 141183
ClinVar RCV Id: RCV000129577 RCV000168255 RCV000181010 RCV000236547 RCV000515195 RCV000780908 RCV001356825 RCV004551243 RCV003492590
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His674Arg
CA164702
NM_001351834.2:c.2021A>G