ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377668
Gene: HNF1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290901
ClinVar RCV Id:
RCV000374880
RCV000399259
RCV002464160
RCV002494897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Ile403Phe
CA8518862
NM_000458.4:c.1207A>T