Canonical Allele Identifier: PA658812379
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 535840
ClinVar RCV Id: RCV001796157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Thr58Pro
CA402914718
NM_001972.4:c.172A>C