Canonical Allele Identifier: PA2829661026
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917296
ClinVar RCV Id: RCV001174079
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006406.1:p.Leu148Val
CA5121543
NM_006415.4:c.442T>G