Canonical Allele Identifier: PA915961211
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2790
ClinVar RCV Id: RCV000002924 RCV001580444 RCV002254901 RCV001851597 RCV004532277
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Gln236His
CA115762
NM_000158.4:c.708G>C
CA353688164
NM_000158.4:c.708G>T