Canonical Allele Identifier: PA2826622384
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4800
ClinVar RCV Id: RCV000005067 RCV001027483 RCV001249800 RCV002512792
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Cys133Tyr
CA340286
NM_001281303.2:c.398G>A