ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164427
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1430689
ClinVar RCV Id:
RCV001952503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000190.1:p.Asp410Gly
CA8817644
NM_000199.5:c.1229A>G