Canonical Allele Identifier: PA2573101580
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 287051
ClinVar RCV Id: RCV001276963 RCV002519276 RCV000281270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala3013Thr
CA1394432
NM_206933.4:c.9037G>A