Canonical Allele Identifier: PA2829366878
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2928959
ClinVar RCV Id: RCV003781685

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Ter268Ser
CA402919591
NM_001972.4:c.803G>C