ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115763
Gene: GBE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000149.3:p.Gln236His
NM_000158.3:c.708G>C
NM_000158.3:c.708G>T