ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580530533
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2269681
ClinVar RCV Id:
RCV002804216
RCV003111678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Ala783Val
CA379802997
NM_153676.4:c.2348C>T