ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580107374
Gene: GBE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000149.4:p.Met499Lys
CA353684811
NM_000158.4:c.1496T>A