ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020451
Gene: HNF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135665
ClinVar RCV Id:
RCV000122743
RCV000517019
RCV000988924
RCV001640109
RCV002390275
RCV002468567
RCV003915222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001293108.2:p.Glu508Lys
CA289173
NM_001306179.2:c.1522G>A