Canonical Allele Identifier: PA2580253521
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1988509
ClinVar RCV Id: RCV002790481
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.His213Gln
CA9026125
NM_001972.4:c.639C>A
CA402918993
NM_001972.4:c.639C>G