ClinGen Allele Registry
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Canonical Allele Identifier:
PA916020424
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14931
ClinVar RCV Id:
RCV000255916
RCV000445525
RCV002051786
RCV002288493
RCV000016068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Arg272His
CA124460
NM_001306179.2:c.815G>A