Canonical Allele Identifier: PA1139762224
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 179193
ClinVar RCV Id: RCV000155979 RCV000666822 RCV000943628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr483Met
CA183926
NM_206933.4:c.1448C>T