Canonical Allele Identifier: PA1139764626
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48364
ClinVar RCV Id: RCV000041685 RCV001034416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu3670Lys
CA143243
NM_206933.4:c.11008G>A