ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689945
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043530
ClinVar RCV Id:
RCV001347649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Gly1177Cys
CA37504824
NM_007123.6:c.3529G>T