ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829189632
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2620136
ClinVar RCV Id:
RCV004359893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378852.1:p.His592Asp
CA5663349
NM_001391923.1:c.1774C>G