ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA214303
Gene: HNF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.5:p.Gln125dup
CA214301
NM_000545.6:c.375_377dup