ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826888976
Gene: HNF1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291215.1:p.Ser316Phe
CA8518947
NM_001304286.2:c.947C>T