ClinGen Allele Registry
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Canonical Allele Identifier:
PA262136
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_996816.2:p.Cys3267Arg
NM_206933.3:c.9799T>C