Canonical Allele Identifier: PA2826686261
Gene: ELP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2540338
ClinVar RCV Id: RCV004311718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001271155.1:p.Arg332Ser
CA4694401
NM_001284226.2:c.996G>C
CA370840683
NM_001284226.2:c.996G>T