ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214370
Gene: HNF1B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
45515
ClinVar RCV:
RCV000030535
RCV001852607
ClinVar Variation:
36854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000449.1:p.Ala317Ser
CA214369
NM_000458.4:c.949G>T