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: SC5D HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000376539.2:p.Leu200Phe
CA383029871
ENST00000392789.2:c.600G>C
CA383029873
ENST00000392789.2:c.600G>T