Allele Registry

Canonical Allele Identifier: PA2827346690

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000757401

RCV001166669

RCV002291611

RCV004020902

ClinVar Variation:

242293

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Arg593Gln	CA5174526 NM_001330749.2:c.1778G>A