ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073441428
Gene: GUSB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000172.2:p.Leu649Arg
CA367636952
NM_000181.4:c.1946T>G