ClinGen Allele Registry
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Canonical Allele Identifier:
PA142362
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48009
ClinVar RCV Id:
RCV000041285
RCV001471034
RCV001331815
RCV001810410
RCV003914998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Ala871Thr
CA142361
NM_153676.4:c.2611G>A