Canonical Allele Identifier: PA101289
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1480802
ClinVar RCV Id: RCV001986038

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Leu49Pro
CA402914587
NM_001972.4:c.146T>C