Canonical Allele Identifier: PA324494
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 213192
ClinVar RCV Id: RCV000531891 RCV000728083 RCV000765972 RCV001161674
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000492.2:p.Gly216Val
CA324493
NM_000501.4:c.647G>T