ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573062792
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1339005
ClinVar RCV Id:
RCV001823459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Leu286Pro
CA398746965
NM_000458.4:c.857T>C