Canonical Allele Identifier: PA2573101913
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 224753
ClinVar RCV Id: RCV000210323 RCV000225553 RCV000505157 RCV001171538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro2149Gln
CA354063
NM_206933.4:c.6446C>A