Canonical Allele Identifier: PA1139764472
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48349
ClinVar RCV Id: RCV000041670 RCV000669162 RCV001350663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr3506Met
CA143221
NM_206933.4:c.10517C>T