ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019624
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
635729
ClinVar RCV Id:
RCV000787253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291215.1:p.Glu44Lys
CA398754352
NM_001304286.2:c.130G>A