Canonical Allele Identifier: PA1139764844
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229618
ClinVar RCV Id: RCV000221966 RCV001857754 RCV001833218 RCV003454602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4187Leu
CA1393451
NM_206933.4:c.12560G>T