Canonical Allele Identifier: PA2826686192
Gene: ELP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2272259
ClinVar RCV Id: RCV004125976
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271151.1:p.Val348Ala
CA4694327
NM_001284222.2:c.1043T>C