Canonical Allele Identifier: PA916075550
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450572

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_847894.1:p.Tyr23Phe
CA373795895
NM_178324.3:c.68A>T