ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829189534
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3098864
ClinVar RCV Id:
RCV004395229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378851.1:p.Ser330Phe
CA212180962
NM_001391922.1:c.989C>T