Canonical Allele Identifier: PA2741813665
Gene: GBE1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Gly264Arg
CA353687573
NM_000158.4:c.790G>C
CA353687574
NM_000158.4:c.790G>A