ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688440
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1913735
ClinVar RCV Id:
RCV002589916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Cys419Arg
CA1396564
NM_007123.6:c.1255T>C