ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139693449
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
994547
ClinVar RCV Id:
RCV001288070
RCV001796420
RCV002319690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Leu123Val
CA386959145
NM_001306179.2:c.367C>G