ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827690202
Gene: SGSH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20146
ClinVar RCV:
RCV000005414
RCV000078356
RCV000348775
RCV000623663
RCV001030817
RCV001837434
RCV003415657
ClinVar Variation:
5107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Arg245His
CA117257
NM_001352921.3:c.734G>A