Canonical Allele Identifier: PA101494
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 636926
ClinVar RCV Id: RCV000788897
ClinVar Variation Id: 2632170
ClinVar RCV Id: RCV003416669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001963.1:p.Val45Leu
CA402914526
NM_001972.4:c.133G>C
CA402914528
NM_001972.4:c.133G>T