Canonical Allele Identifier: PA2826622339
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449988
ClinVar RCV Id: RCV000871430 RCV001174074 RCV001249820 RCV002358410 RCV001722441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Phe40Leu
CA5121677
NM_001281303.2:c.120C>G
CA373795530
NM_001281303.2:c.120C>A
CA373795543
NM_001281303.2:c.118T>C