Canonical Allele Identifier: PA109426
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4804
ClinVar RCV Id: RCV000005071 RCV003223389
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006406.1:p.Ser331Phe
CA117094
NM_006415.4:c.992C>T