ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688253
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003389547
ClinVar Variation:
2503086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Cys319Phe
CA344912560
NM_007123.6:c.956G>T