ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020443
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14928
ClinVar RCV Id:
RCV000016065
RCV000713784
RCV000762891
RCV001526899
RCV001810399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Pro447Leu
CA124454
NM_001306179.2:c.1340C>T