Canonical Allele Identifier: PA2826622392
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1045973
ClinVar RCV Id: RCV001350467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Leu146Val
CA373799031
NM_001281303.2:c.436T>G