ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763724
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48575
ClinVar RCV Id:
RCV000041901
RCV000893876
RCV001271990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg2354Cys
CA143583
NM_206933.4:c.7060C>T