ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688254
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2355
ClinVar RCV Id:
RCV000002449
RCV000303941
RCV000824798
RCV001004780
RCV001074393
RCV003460406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Cys319Tyr
CA252231
NM_007123.6:c.956G>A