Canonical Allele Identifier: PA2827346888
Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259112
ClinVar RCV Id: RCV000250637 RCV000280679 RCV000589688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317678.1:p.Cys723Ser
CA5174387
NM_001330749.2:c.2167T>A
CA374414828
NM_001330749.2:c.2168G>C