ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074473235
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Ser46Asn
CA367654991
NM_000181.4:c.137G>A