Canonical Allele Identifier: PA2829902689
Gene: ELP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374912
ClinVar RCV Id: RCV000415524

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060725.1:p.Arg462Leu
CA16043971
NM_018255.4:c.1385G>T