Canonical Allele Identifier: PA916047234
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4801
ClinVar RCV Id: RCV000005068 RCV000235837 RCV001174070 RCV001249799 RCV002326664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355201.1:p.Val22Asp
CA340288
NM_001368272.1:c.65T>A