ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741864778
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2817814
ClinVar RCV Id:
RCV003613729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339851.1:p.Asp235His
CA401361351
NM_001352922.2:c.703G>C