ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825206992
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1700671
ClinVar RCV Id:
RCV002285549
RCV003560915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Ala116Val
CA6831743
NM_000545.8:c.347C>T