Canonical Allele Identifier: PA1139765112
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48422
ClinVar RCV Id: RCV000041745 RCV000585560 RCV001272941 RCV001376370 RCV003887893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg4570His
CA143326
NM_206933.4:c.13709G>A