Canonical Allele Identifier: PA2826617193
Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 449781
ClinVar RCV Id: RCV000522898 RCV001158464 RCV001158465 RCV004541630
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265846.1:p.Val144Met
CA4292496
NM_001278917.2:c.430G>A