Canonical Allele Identifier: PA2829688230
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438032
ClinVar RCV Id: RCV000504774 RCV001300494 RCV001834624 RCV003464081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.Pro309Leu
CA344912616
NM_007123.6:c.926C>T