Canonical Allele Identifier: PA109394
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_006406.1:p.Ala352Val
CA253295
NM_006415.4:c.1055C>T