ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139693513
Gene: HNF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Lys222del
CA214314
NM_001306179.2:c.666_668del