Canonical Allele Identifier: PA2499305556
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1298452
ClinVar RCV Id: RCV001726782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys4236Ser
CA344849699
NM_206933.4:c.12707G>C
CA344849716
NM_206933.4:c.12706T>A