ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829626150
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2151804
ClinVar RCV Id:
RCV003061501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Arg487Trp
CA5904209
NM_005709.4:c.1459C>T