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
ENSP00000509268.1:p.Gln418His
CA373790290
ENST00000686600.1:c.1254A>T
CA373790292
ENST00000686600.1:c.1254A>C