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
ENSP00000509208.1:p.Thr483Ser
CA373788980
ENST00000687972.1:c.1448C>G
CA373788985
ENST00000687972.1:c.1447A>T