Allele Registry

Canonical Allele Identifier: PA100983

Gene: ELANE HGNC NCBI

ClinVar Allele:

31785

ClinVar RCV:

RCV000018230

RCV002472320

ClinVar Variation:

16746

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Cys71Arg	CA281057 NM_001972.4:c.211T>C