Canonical Allele Identifier: PA1139765448
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48453
ClinVar RCV Id: RCV000041776 RCV001509629 RCV001276143 RCV003887902 RCV003450809
ClinVar Variation Id: 2728479
ClinVar RCV Id: RCV003559505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Lys5026Glu
CA143380
NM_206933.4:c.15076A>G
CA2697554873
NM_206933.4:c.15075_15076delinsCG