Canonical Allele Identifier: PA2573101976
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 498883
ClinVar RCV Id: RCV000594966 RCV001834880 RCV003987614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4516Ala
CA344844669
NM_206933.4:c.13547G>C