ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020383
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447489
ClinVar RCV Id:
RCV002319512
RCV003482268
RCV002222038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Ser145Phe
CA386959990
NM_001306179.2:c.434C>T