Canonical Allele Identifier: PA142378
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 5149
ClinVar RCV Id: RCV000005456 RCV000041291 RCV000972120 RCV002496267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005700.2:p.Val130Ile
CA142377
NM_005709.4:c.388G>A