Canonical Allele Identifier: PA1139724124
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 839879
ClinVar RCV Id: RCV001796348
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Arg78Pro
CA9025980
NM_001972.4:c.233G>C