Allele Registry

Canonical Allele Identifier: PA2826988221

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000262689

RCV000755553

RCV003932508

ClinVar Variation:

364578

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Leu194Pro	CA5175196 NM_001318360.2:c.581T>C