Canonical Allele Identifier: PA2825080714
Gene: SGSH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Val220Leu
CA8817920
NM_000199.5:c.658G>T
CA8817922
NM_000199.5:c.658G>C