Canonical Allele Identifier: PA1139764840
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 856772
ClinVar RCV Id: RCV001062307
ClinVar Variation Id: 1066345
ClinVar RCV Id: RCV001377319 RCV003473901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Trp4175Cys
CA344850717
NM_206933.4:c.12525G>T
CA344850718
NM_206933.4:c.12525G>C