ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142381
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48015
ClinVar RCV Id:
RCV000041292
RCV000343731
RCV000963575
RCV001578830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Val135Ile
CA142380
NM_005709.4:c.403G>A