Canonical Allele Identifier: PA2499229110
Gene: GBE1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Val204Leu
CA353688385
NM_000158.4:c.610G>T
CA353688386
NM_000158.4:c.610G>C