Allele Registry

Canonical Allele Identifier: PA645460968

Gene: ELANE HGNC NCBI

ClinVar Allele:

243866

998876

ClinVar RCV:

RCV000232592

RCV001796434

ClinVar Variation:

242308

1009601

HGVS (amino-acid)	Matching Registered Transcripts
NP_001963.1:p.Arg191Ser	CA9026096 NM_001972.4:c.573G>C CA402918731 NM_001972.4:c.573G>T