ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207348
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447504
ClinVar RCV Id:
RCV000517855
RCV002319516
RCV002222044
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Lys273Gln
CA386966376
NM_000545.8:c.817A>C