Canonical Allele Identifier: PA2580204079
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2175460
ClinVar RCV Id: RCV002602341
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.His1474Gln
CA382532264
NM_001351834.2:c.4422C>A
CA382532265
NM_001351834.2:c.4422C>G