ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829626016
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1209665
ClinVar RCV Id:
RCV001578833
RCV001578834
RCV002569100
RCV003389496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Arg457Cys
CA5904255
NM_005709.4:c.1369C>T