Canonical Allele Identifier: PA1139764877
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228311
ClinVar RCV Id: RCV000221320 RCV001376369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4234Pro
CA10576374
NM_206933.4:c.12700A>C