ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672983
Gene: GBE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000149.3:p.Arg524Gly
CA353684655
NM_000158.3:c.1570C>G