Canonical Allele Identifier: PA2741812030
Gene: SGSH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Asp477Glu
CA401358441
NM_000199.5:c.1431C>G
CA401358442
NM_000199.5:c.1431C>A