Allele Registry

Canonical Allele Identifier: PA3057575871

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV002260543

ClinVar Variation:

1693275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Gln97_Ala100dup	CA2580096961 NM_001972.4:c.289_300dup