ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247482
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1187378
ClinVar RCV Id:
RCV001546801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Ser121Pro
CA386959096
NM_001306179.2:c.361T>C