Canonical Allele Identifier: PA2826307819
Gene: ELP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374912
ClinVar RCV Id: RCV000415524

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001229805.1:p.Arg457Leu
CA16043971
NM_001242876.3:c.1370G>T