Allele Registry

Canonical Allele Identifier: PA2573219793

Gene: ELANE HGNC NCBI

ClinVar RCV:

RCV001994518

RCV003481217

ClinVar Variation:

1452300

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Ser126Trp	CA402917752 NM_001972.4:c.377C>G