ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139693453
Gene: HNF1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030501
RCV001852603
RCV002222007
RCV002319430
ClinVar Variation:
36820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Gln125dup
CA214301
NM_001306179.2:c.375_377dup