ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA182723
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178643
ClinVar RCV Id:
RCV000155398
RCV000889692
RCV001106340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Glu316Gln
CA182721
NM_153676.4:c.946G>C