ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826846848
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992076
ClinVar RCV Id:
RCV001280392
RCV001796417
RCV002542957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Arg435Trp
CA5904260
NM_001297764.2:c.1303C>T