Canonical Allele Identifier: PA1139764961
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143172
ClinVar RCV Id: RCV000132703 RCV000983996 RCV000824779 RCV001073283 RCV001043740 RCV003324517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4337Met
CA270139
NM_206933.4:c.13010C>T