ClinGen Allele Registry
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Canonical Allele Identifier:
PA913193156
Gene: HNF1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000731270
RCV001125735
RCV002422628
ClinVar Variation:
595653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.His336Asp
CA8518950
NM_000458.4:c.1006C>G