Canonical Allele Identifier: PA2829189899
Gene: GBF1 HGNC NCBI
ClinVar RCV:
RCV004359893
ClinVar Variation:
2620136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001378855.1:p.His592Asp
CA5663349
NM_001391926.1:c.1774C>G