Canonical Allele Identifier: PA2573101965
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 393047
ClinVar RCV Id: RCV000436442 RCV001073896 RCV001828454 RCV003449098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4139Arg
CA16603530
NM_206933.4:c.12415G>C