Canonical Allele Identifier: PA2829189543
Gene: GBF1 HGNC NCBI
ClinVar RCV:
RCV004268905
ClinVar Variation:
2475860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001378851.1:p.Glu552Gln
CA5663295
NM_001391922.1:c.1654G>C