ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826687717
Gene: GUSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
894
ClinVar RCV Id:
RCV000000942
RCV000170573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271219.1:p.Arg236Cys
CA199699
NM_001284290.2:c.706C>T