Canonical Allele Identifier: PA645462225
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372788
ClinVar RCV Id: RCV000414705 RCV000790228 RCV000795948 RCV001249813 RCV003152600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006406.1:p.Ser331Tyr
CA16042656
NM_006415.4:c.992C>A