Canonical Allele Identifier: PA1139764756
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 505157
ClinVar RCV Id: RCV000606109 RCV001370845 RCV003451367 RCV003451366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val3914Ile
CA344829769
NM_206933.4:c.11740G>A