Canonical Allele Identifier: PA2741867148
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2761037
ClinVar RCV Id: RCV003500234
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu1850Phe
CA382545984
NM_001351834.2:c.5550A>C
CA382545986
NM_001351834.2:c.5550A>T