ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742037162
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_996816.3:p.Cys319Phe
CA344912560
NM_206933.4:c.956G>T