Canonical Allele Identifier: PA645438053
Gene: SGSH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000190.1:p.Phe225Leu
NM_000199.5:c.673T>C

NM_000199.5:c.675C>A

NM_000199.5:c.675C>G