Allele Registry

Canonical Allele Identifier: PA2827346839

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV001047302

RCV001275744

ClinVar Variation:

844456

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Asn678Asp	CA5174438 NM_001330749.2:c.2032A>G