Canonical Allele Identifier: PA2828287718
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4804
ClinVar RCV Id: RCV000005071 RCV003223389
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355202.1:p.Ser176Phe
CA117094
NM_001368273.1:c.527C>T