ClinGen Allele Registry
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Canonical Allele Identifier:
PA916020399
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129235
ClinVar RCV Id:
RCV000117232
RCV000430669
RCV002285267
RCV002222019
RCV002354301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Arg203His
CA153100
NM_001306179.2:c.608G>A