ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826822517
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280034.1:p.Ala194Val
CA4276349
NM_001293105.2:c.581C>T