ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069901
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327619
ClinVar RCV Id:
RCV001794563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Pro129Thr
CA386959373
NM_001306179.2:c.385C>A