ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825094741
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Arg216Gln
CA367649474
NM_000181.4:c.647G>A