Canonical Allele Identifier: PA2573101812
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 557093
ClinVar RCV Id: RCV000673184 RCV001376749 RCV003472152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys4194Arg
CA344850567
NM_206933.4:c.12580T>C