ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825207580
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997653
ClinVar RCV Id:
RCV001292963
RCV001859238
RCV002319695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000536.6:p.Met493Thr
CA244535115
NM_000545.8:c.1478T>C