ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826687718
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271219.1:p.Arg236His
CA367644059
NM_001284290.2:c.707G>A