Canonical Allele Identifier: PA645472473
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 360658
ClinVar RCV Id: RCV000285328 RCV000381857 RCV001556564 RCV004022054
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000492.2:p.Leu609Phe
CA4293244
NM_000501.4:c.1825C>T