Canonical Allele Identifier: PA915961222
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 437422
ClinVar RCV Id: RCV000502833 RCV000674419 RCV001770384 RCV002509416 RCV002524352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000149.4:p.Arg262His
CA2499857
NM_000158.4:c.785G>A