ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825080736
Gene: SGSH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000796248
ClinVar Variation:
642734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000190.1:p.Arg233Gly
CA8817836
NM_000199.5:c.697C>G