ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139765422
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229622
ClinVar RCV Id:
RCV000218549
RCV000668291
RCV001034435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Asp4968Asn
CA1392895
NM_206933.4:c.14902G>A