Canonical Allele Identifier: PA2580539845
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2436471
ClinVar RCV Id: RCV003487310

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_847894.1:p.Glu48Gly
CA373795386
NM_178324.3:c.143A>G