Allele Registry

Canonical Allele Identifier: PA2827256030

Gene: ELP2 HGNC NCBI

ClinVar RCV:

RCV003147044

ClinVar Variation:

2441215

HGVS (amino-acid)	Matching Registered Transcripts
NP_001311396.1:p.Val149Leu	CA402202203 NM_001324467.2:c.445G>T CA402202204 NM_001324467.2:c.445G>C