ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689870
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166511
ClinVar RCV Id:
RCV000152625
RCV000504687
RCV000894588
RCV001100645
RCV001100644
RCV004544387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Gly1132Asp
CA179576
NM_007123.6:c.3395G>A