Canonical Allele Identifier: PA1139762719
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166512
ClinVar RCV Id: RCV000152627 RCV000918519 RCV001097182 RCV001097183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu1047Val
CA179578
NM_206933.4:c.3139C>G