ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207293
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2758582
ClinVar RCV Id:
RCV003569770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Asn257His
CA386966010
NM_000545.8:c.769A>C