Canonical Allele Identifier: PA2826622331
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246520
ClinVar RCV Id: RCV000236861 RCV003223342
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Ala20Ser
CA10584304
NM_001281303.2:c.58G>T