Allele Registry

Canonical Allele Identifier: PA100855

Gene: ELANE HGNC NCBI

ClinVar Allele:

363906

ClinVar RCV:

RCV000429848

ClinVar Variation:

377028

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ala57Val	CA16603237 NM_001972.4:c.170C>T