ClinGen Allele Registry
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Canonical Allele Identifier:
PA3063906581
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Arg317Gly
CA344912576
NM_007123.6:c.949C>G