ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079289891
Gene: HNF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Pro447Gln
CA386970032
NM_000545.8:c.1340C>A