Allele Registry

Canonical Allele Identifier: PA645460973

Gene: ELANE HGNC NCBI

ClinVar Allele:

260219

ClinVar RCV:

RCV000255959

RCV003765567

ClinVar Variation:

265119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Gly210Arg	CA9026123 NM_001972.4:c.628G>A CA402918954 NM_001972.4:c.628G>C