ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139762293
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
57633
ClinVar RCV:
RCV000041794
RCV000413438
RCV000678646
RCV000787727
RCV000984314
RCV001074602
RCV002483034
ClinVar Variation:
48471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys536Arg
CA262095
NM_206933.4:c.1606T>C