Allele Registry

Canonical Allele Identifier: PA111441

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000006459

RCV000789660

RCV001380395

RCV002482833

ClinVar Variation:

6086

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg696Pro	CA253767 NM_003640.5:c.2087G>C