Canonical Allele Identifier: PA2573101981
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143174
ClinVar RCV Id: RCV000132705 RCV001075191 RCV002514759 RCV003453100 RCV004525879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4616Val
CA270143
NM_206933.4:c.13847G>T