Canonical Allele Identifier: PA2741886879
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2933841
ClinVar RCV Id: RCV003793399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Val135Leu
CA402917883
NM_001972.4:c.403G>T
CA402917885
NM_001972.4:c.403G>C