Canonical Allele Identifier: PA2825482166
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_001075222.1:p.Leu595Phe
CA4293244
NM_001081753.3:c.1783C>T