ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689361
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166517
ClinVar RCV Id:
RCV000152631
RCV000881023
RCV001100749
RCV001100750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Arg837Gln
CA179584
NM_007123.6:c.2510G>A