Allele Registry

Canonical Allele Identifier: PA100938

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV001824261

ClinVar Variation:

1339552

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Cys151Ser	CA402918114 NM_001972.4:c.451T>A CA402918122 NM_001972.4:c.452G>C