Allele Registry

Canonical Allele Identifier: PA2826988314

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000630703

RCV000780354

RCV001168463

RCV001276240

ClinVar Variation:

372384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Arg291Trp	CA5175080 NM_001318360.2:c.871C>T