ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829189978
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2380377
ClinVar RCV Id:
RCV004218877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378856.1:p.Leu336Phe
CA5663145
NM_001391927.1:c.1006C>T