Allele Registry

Canonical Allele Identifier: PA101083

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000018232

RCV000214338

RCV001336413

RCV001851904

RCV002472352

ClinVar Variation:

16748

1806472

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Gly214Arg	CA281059 NM_001972.4:c.640G>A CA402918995 NM_001972.4:c.640G>C