ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580194406
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1699998
ClinVar RCV Id:
RCV002274263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Glu228Lys
CA6831794
NM_001306179.2:c.682G>A