Canonical Allele Identifier: PA1139761971
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48564
ClinVar RCV Id: RCV000041890 RCV000408647 RCV000675152 RCV000504825 RCV001075204 RCV004537156 RCV001826599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val218Glu
CA262114
NM_206933.4:c.653T>A