Canonical Allele Identifier: PA2826622391
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4801
ClinVar RCV Id: RCV000005068 RCV000235837 RCV001174070 RCV001249799 RCV002326664
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Val144Asp
CA340288
NM_001281303.2:c.431T>A