ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826846553
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5149
ClinVar RCV Id:
RCV000005456
RCV000041291
RCV000972120
RCV002496267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Val130Ile
CA142377
NM_001297764.2:c.388G>A