Allele Registry

Canonical Allele Identifier: PA645427287

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000262689

RCV000755553

RCV003932508

ClinVar Variation:

364578

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Leu308Pro	CA5175196 NM_003640.5:c.923T>C