Canonical Allele Identifier: PA1139764863
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 178573
ClinVar RCV Id: RCV000155321 RCV000724907 RCV001272951 RCV004019860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Trp4200Gly
CA182586
NM_206933.4:c.12598T>G