ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019659
Gene: HNF1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013480
RCV001551662
ClinVar Variation:
12645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291215.1:p.Ser148Trp
CA122604
NM_001304286.2:c.443C>G