ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826846594
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2196519
ClinVar RCV Id:
RCV002633732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Val172Met
CA5905000
NM_001297764.2:c.514G>A