ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961274
Gene: GBE1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000149.4:p.Arg515Cys
NM_000158.4:c.1543C>T