ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377604
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418253
ClinVar RCV Id:
RCV000479017
RCV000787150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Arg252Pro
CA16620399
NM_000458.4:c.755G>C