Canonical Allele Identifier: PA916010758
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388906
ClinVar RCV Id: RCV000488106 RCV000692000 RCV001174084 RCV002393027
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Ser457Ile
CA5121188
NM_001281303.2:c.1370G>T