ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207269
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1676716
ClinVar RCV Id:
RCV002222113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Ser249Pro
CA386965901
NM_000545.8:c.745T>C