Allele Registry

Canonical Allele Identifier: PA3057245964

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000234597

ClinVar Variation:

242297

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Asn113_Ile120del	CA10583967 NM_001972.4:c.336_359del