ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020404
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435428
ClinVar RCV Id:
RCV000500461
RCV002222036
RCV002463450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Lys226del
CA482164157
NM_001306179.2:c.676_678del