Canonical Allele Identifier: PA101329
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2138167
ClinVar RCV Id: RCV003050505
ClinVar Variation Id: 2947200
ClinVar RCV Id: RCV003801390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Phe43Leu
CA402914486
NM_001972.4:c.127T>C
CA402914499
NM_001972.4:c.129C>A
CA402914501
NM_001972.4:c.129C>G