ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139693554
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
586795
ClinVar RCV Id:
RCV000713796
RCV002463736
RCV002507251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Glu275del
CA608060148
NM_001306179.2:c.824_826del