ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689366
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715715
ClinVar RCV Id:
RCV002301452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Gln838Lys
CA344864635
NM_007123.6:c.2512C>A