ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020426
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447504
ClinVar RCV Id:
RCV000517855
RCV002319516
RCV002222044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Lys273Gln
CA386966376
NM_001306179.2:c.817A>C