Allele Registry

Canonical Allele Identifier: PA101351

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV000018227

RCV000220001

RCV001794456

RCV002472319

ClinVar Variation:

16743

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Pro139Leu	CA281050 NM_001972.4:c.416C>T