ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827690144
Gene: SGSH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002471862
ClinVar Variation:
1805444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Arg206His
CA8817933
NM_001352921.3:c.617G>A