Canonical Allele Identifier: PA645460930
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 242276
ClinVar RCV Id: RCV000230281 RCV002518391
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Ala8Val
CA9025901
NM_001972.4:c.23C>T