ClinGen Allele Registry
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Canonical Allele Identifier:
PA182570
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178564
ClinVar RCV Id:
RCV000155312
RCV000668570
RCV001272252
RCV002514993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Gln747Arg
CA182568
NM_153676.4:c.2240A>G