ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207275
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447498
ClinVar RCV Id:
RCV000518130
RCV002463713
RCV002222041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Gln250Pro
CA386965923
NM_000545.8:c.749A>C