ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827689981
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92611
ClinVar RCV Id:
RCV000078353
RCV001800385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Ser71Pro
CA220485
NM_001352921.3:c.211T>C