Canonical Allele Identifier: PA2573101773
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438036
ClinVar RCV Id: RCV000504661 RCV000593818 RCV001075611 RCV001376250 RCV001810454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Cys3294Trp
CA1394189
NM_206933.4:c.9882C>G