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: SGSH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Met246Ile
CA401361107
NM_000199.5:c.738G>T
CA401361110
NM_000199.5:c.738G>C
CA401361115
NM_000199.5:c.738G>A