Allele Registry

Canonical Allele Identifier: PA100993

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000228283

RCV003227729

ClinVar Variation:

242278

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Cys71Phe	CA10583958 NM_001972.4:c.212G>T