Canonical Allele Identifier: PA1139724274
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 958973
ClinVar RCV Id: RCV001796403

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Leu115Ile
CA9026004
NM_001972.4:c.343C>A