Canonical Allele Identifier: PA916031772
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186322
ClinVar RCV Id: RCV000165898 RCV000233396 RCV000235274 RCV000779758 RCV003150026 RCV003474870 RCV002498820
ClinVar Variation Id: 407573
ClinVar RCV Id: RCV000461934
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu480Phe
CA194471
NM_001351834.2:c.1440A>C
CA16613320
NM_001351834.2:c.1440A>T