ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142310
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5148
ClinVar RCV Id:
RCV000005455
RCV000041259
RCV000755427
RCV001276292
RCV001797045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Pro608Arg
CA142309
NM_153676.4:c.1823C>G