ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763346
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48538
ClinVar RCV Id:
RCV000041864
RCV000903235
RCV001810413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys1900Gly
CA143525
NM_206933.4:c.5698T>G