Allele Registry

Canonical Allele Identifier: PA2827346916

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000659118

RCV001166178

RCV004020903

ClinVar Variation:

242294

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Arg745Gly	CA5174360 NM_001330749.2:c.2233A>G