ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829190325
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2475860
ClinVar RCV Id:
RCV004268905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378860.1:p.Glu393Gln
CA5663295
NM_001391931.1:c.1177G>C