ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207144
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402949
ClinVar RCV Id:
RCV000455694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Ala180Val
CA16609762
NM_000545.8:c.539C>T