ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812159
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
505000
ClinVar RCV Id:
RCV000600877
RCV000910503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Ser851Ala
CA5904094
NM_153676.4:c.2551T>G