ClinGen Allele Registry
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Canonical Allele Identifier:
PA916019625
Gene: HNF1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
45501
ClinVar RCV:
RCV000030521
RCV000730643
RCV000787252
RCV002490424
ClinVar Variation:
36840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291215.1:p.Pro47Leu
CA214348
NM_001304286.2:c.140C>T