ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101801
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
636113
ClinVar RCV Id:
RCV000787719
RCV001198125
RCV002535755
RCV003453624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg3905His
CA1393628
NM_206933.4:c.11714G>A