Canonical Allele Identifier: PA2573101753
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 495329
ClinVar RCV Id: RCV000586218 RCV001073311 RCV001853963
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg2894Lys
CA344828778
NM_206933.4:c.8681G>A