ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762711
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166513
ClinVar RCV Id:
RCV000152628
RCV000477797
RCV001034259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.His1015Tyr
CA179580
NM_206933.4:c.3043C>T