ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101775
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226441
ClinVar RCV Id:
RCV000216234
RCV001056911
RCV000675100
RCV001004786
RCV001376499
RCV001723791
RCV001833176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys3307Trp
CA16044155
NM_206933.4:c.9921T>G