Canonical Allele Identifier: PA1139763806
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228223
ClinVar RCV Id: RCV000666814 RCV001271980 RCV001812236 RCV002517521 RCV000217075
ClinVar Variation Id: 2268047
ClinVar RCV Id: RCV002809258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser2498Arg
CA1394821
NM_206933.4:c.7494T>A
CA344848537
NM_206933.4:c.7494T>G
CA344848560
NM_206933.4:c.7492A>C