ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111295
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288154
ClinVar RCV Id:
RCV000787122
RCV000713806
RCV001535983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Arg295His
CA10605981
NM_000458.4:c.884G>A