ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214344
Gene: HNF1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030518
RCV001852605
RCV003398576
ClinVar Variation:
36837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.His336Tyr
CA214343
NM_000458.4:c.1006C>T