Canonical Allele Identifier: PA2573219902
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1484002
ClinVar RCV Id: RCV002003362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Val207Phe
CA402918924
NM_001972.4:c.619G>T