Canonical Allele Identifier: PA2829661023
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1045973
ClinVar RCV Id: RCV001350467

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006406.1:p.Leu146Val
CA373799031
NM_006415.4:c.436T>G