Canonical Allele Identifier: PA2826686169
Gene: ELP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2272259
ClinVar RCV Id: RCV004125976

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271149.1:p.Val290Ala
CA4694327
NM_001284220.2:c.869T>C