Canonical Allele Identifier: PA645460945
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 242303
ClinVar RCV Id: RCV000226787 RCV002518395
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.His87_Ser90dup
CA9025985
NM_001972.4:c.258_269dup