Canonical Allele Identifier: PA2825080742
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 2817814
ClinVar RCV Id: RCV003613729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Asp235His
CA401361351
NM_000199.5:c.703G>C