ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139751055
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_710142.1:p.Arg754Trp
CA5904260
NM_153676.4:c.2260C>T