Canonical Allele Identifier: PA2580253434
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2156128
ClinVar RCV Id: RCV003090840

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Cys55Arg
CA402914674
NM_001972.4:c.163T>C