Canonical Allele Identifier: PA1139765221
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 229621
ClinVar RCV Id: RCV000221554 RCV000763827 RCV001272936 RCV001422550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4731Arg
CA1393098
NM_206933.4:c.14191G>A
CA1393099
NM_206933.4:c.14191G>C