Canonical Allele Identifier: PA2573219928
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1520875
ClinVar RCV Id: RCV002030981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Gly222Cys
CA402919076
NM_001972.4:c.664G>T