ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573099624
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1315317
ClinVar RCV Id:
RCV001774567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Ser665Asn
CA5904396
NM_153676.4:c.1994G>A