Allele Registry

Canonical Allele Identifier: PA2827346362

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000006459

RCV000789660

RCV001380395

RCV002482833

ClinVar Variation:

6086

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Arg347Pro	CA253767 NM_001330749.2:c.1040G>C