ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829625998
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_005700.2:p.Arg454Trp
CA5904260
NM_005709.4:c.1360C>T