Canonical Allele Identifier: PA2828287566
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4805
ClinVar RCV Id: RCV000005072 RCV001321436
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355201.1:p.Ala230Val
CA253295
NM_001368272.1:c.689C>T