Canonical Allele Identifier: PA1139763608
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166481
ClinVar RCV Id: RCV000152602 RCV000504981 RCV000669599 RCV001240603 RCV001826815
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr2197Ile
CA179546
NM_206933.4:c.6590C>T