Canonical Allele Identifier: PA2741886942
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2648869
ClinVar RCV Id: RCV003423142

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Asp230Asn
CA9026142
NM_001972.4:c.688G>A