ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829626148
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139778
ClinVar RCV Id:
RCV003052774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Arg487Gln
CA5904208
NM_005709.4:c.1460G>A