ClinGen Allele Registry
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Canonical Allele Identifier:
PA142661
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48134
ClinVar RCV Id:
RCV000041422
RCV001124409
RCV000958231
RCV004537146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Arg189Gln
CA142660
NM_173477.5:c.566G>A