ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499299570
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_710142.1:p.Arg757Cys
CA5904255
NM_153676.4:c.2269C>T