ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214349
Gene: HNF1B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000449.1:p.Pro47Leu
NM_000458.4:c.140C>T