Canonical Allele Identifier: PA142379
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 5149
ClinVar RCV Id: RCV000005456 RCV000041291 RCV000972120 RCV002496267
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_710142.1:p.Val130Ile
CA142377
NM_153676.4:c.388G>A