Canonical Allele Identifier: PA2826622385
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4803
ClinVar RCV Id: RCV000005070 RCV001174071 RCV001004021 RCV001249798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Cys133Trp
CA340293
NM_001281303.2:c.399T>G