ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689450
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848705
ClinVar RCV Id:
RCV001052522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Phe894Val
CA344864272
NM_007123.6:c.2680T>G