Canonical Allele Identifier: PA2826622382
Gene: SPTLC1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Val130Leu
CA5121582
NM_001281303.2:c.388G>T
CA5121583
NM_001281303.2:c.388G>C