Canonical Allele Identifier: PA916031373
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 481313
ClinVar RCV Id: RCV000562118 RCV001858171
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His192Tyr
CA382527871
NM_001351834.2:c.574C>T