ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499305553
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1209801
ClinVar RCV Id:
RCV001579148
RCV001579149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Asp4151His
CA1393464
NM_206933.4:c.12451G>C