ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829189899
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004359893
ClinVar Variation:
2620136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378855.1:p.His592Asp
CA5663349
NM_001391926.1:c.1774C>G