Canonical Allele Identifier: PA2826622399
Gene: SPTLC1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268232.1:p.Arg151Leu
CA5121538
NM_001281303.2:c.452G>T