ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689256
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178583
ClinVar RCV Id:
RCV000155332
RCV001073261
RCV001051381
RCV001810429
RCV001804867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Asp778Tyr
CA182608
NM_007123.6:c.2332G>T