ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101611
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000276147
RCV000666542
RCV000754554
RCV001074790
RCV001828199
RCV002229842
ClinVar Variation:
284411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg303His
CA1396646
NM_206933.4:c.908G>A