ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139764484
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48353
ClinVar RCV Id:
RCV000041674
RCV000667791
RCV001852852
RCV003466892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly3529Ser
CA143227
NM_206933.4:c.10585G>A