ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020439
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000497653
RCV000762890
RCV001109486
RCV002248729
RCV002298626
RCV002446968
RCV003330316
ClinVar Variation:
431970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Pro379Ala
CA6831955
NM_001306179.2:c.1135C>G