ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825207246
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134510
ClinVar RCV Id:
RCV000121195
RCV000988921
RCV001770095
RCV002463644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Ala239Val
CA160016
NM_000545.8:c.716C>T