Allele Registry

Canonical Allele Identifier: PA101539

Gene: ELANE HGNC NCBI

ClinVar Allele:

31786

ClinVar RCV:

RCV005213240

ClinVar Variation:

242775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Val98Leu	CA084207 NM_001972.4:c.292G>T CA402916035 NM_001972.4:c.292G>C