Allele Registry

Canonical Allele Identifier: PA101245

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000018223

RCV000990117

ClinVar Variation:

16739

803508

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Leu206Phe	CA281046 NM_001972.4:c.618G>T CA402918918 NM_001972.4:c.618G>C