ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826846482
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196417
ClinVar RCV Id:
RCV000177238
RCV000666825
RCV001832015
RCV002485157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Arg63Gln
CA243367
NM_001297764.2:c.188G>A