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.Asp183Glu
CA373798367
ENST00000686600.1:c.549C>G
CA373798370
ENST00000686600.1:c.549C>A