Canonical Allele Identifier: PA1139764036
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 953821
ClinVar RCV Id: RCV001226171

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg2894Ser
CA344851532
NM_206933.4:c.8682G>T
CA344851533
NM_206933.4:c.8682G>C