ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139694711
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271219.1:p.Pro108Leu
CA367651934
NM_001284290.2:c.323C>T