ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826846684
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
303809
ClinVar RCV Id:
RCV000310482
RCV000825027
RCV001068380
RCV004021506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Val264Ile
CA5904875
NM_001297764.2:c.790G>A