ClinGen Allele Registry
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Canonical Allele Identifier:
PA916020397
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381588
ClinVar RCV Id:
RCV000424339
RCV001175316
RCV002222035
RCV002356548
RCV002472310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Arg200Gln
CA16606474
NM_001306179.2:c.599G>A