Canonical Allele Identifier: PA916075581
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4800
ClinVar RCV Id: RCV000005067 RCV001027483 RCV001249800 RCV002512792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_847894.1:p.Cys133Tyr
CA340286
NM_178324.3:c.398G>A