This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SPTLC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509426.1:p.Leu148Phe
CA373798981
ENST00000687427.1:c.444G>T
CA373798982
ENST00000687427.1:c.444G>C