Canonical Allele Identifier: PA2573164433
Gene: SGSH HGNC NCBI
ClinVar RCV:
RCV001923043
ClinVar Variation:
1412033
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Arg435His
CA8817618
NM_000199.5:c.1304G>A