Canonical Allele Identifier: PA915978939
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 811949
ClinVar RCV Id: RCV001002463 RCV001796341
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Pro234Leu
CA9026145
NM_001972.4:c.701C>T
CA645613905
NM_001972.4:c.700_701delinsTT