ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829626131
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2269681
ClinVar RCV Id:
RCV002804216
RCV003111678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Ala483Val
CA379802997
NM_005709.4:c.1448C>T