Canonical Allele Identifier: PA2827690163
Gene: SGSH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339850.1:p.Val220Leu
CA8817920
NM_001352921.3:c.658G>T
CA8817922
NM_001352921.3:c.658G>C