ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019645
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36846
ClinVar RCV Id:
RCV000030527
RCV002464085
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291215.1:p.Ser115Asn
CA214357
NM_001304286.2:c.344G>A