ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826889029
Gene: HNF1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030520
RCV002464083
ClinVar Variation:
36839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291215.1:p.Met416Thr
CA214346
NM_001304286.2:c.1247T>C