Canonical Allele Identifier: PA2573101953
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 551066
ClinVar RCV Id: RCV000666031 RCV001035468 RCV001273694 RCV003459575 RCV003889945
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile3620Thr
CA1393903
NM_206933.4:c.10859T>C