ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764547
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
834490
ClinVar RCV Id:
RCV001035186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Arg222Gln
CA293984385
NM_173477.5:c.665G>A