Canonical Allele Identifier: PA658818756
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 515991
ClinVar RCV Id: RCV000606226 RCV001510491 RCV002395617
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Arg460Cys
CA5121186
NM_001281303.2:c.1378C>T