Canonical Allele Identifier: PA1139763693
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 374591
ClinVar RCV Id: RCV000416248 RCV000602087 RCV001271992 RCV002488860 RCV003330661 RCV003389472
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly2295Arg
CA1395009
NM_206933.4:c.6883G>A
CA344854181
NM_206933.4:c.6883G>C