Allele Registry

Canonical Allele Identifier: PA1139699587

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV001047302

RCV001275744

ClinVar Variation:

844456

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Asn913Asp	CA5174438 NM_001318360.2:c.2737A>G