Canonical Allele Identifier: PA2827346380
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 969318
ClinVar RCV Id: RCV001829934 RCV001244637 RCV002491821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317678.1:p.Arg373Gln
CA5174753
NM_001330749.2:c.1118G>A