Canonical Allele Identifier: PA1139764767
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48385
ClinVar RCV Id: RCV000041707 RCV000725418 RCV000986519 RCV001579153
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr3976Met
CA143275
NM_206933.4:c.11927C>T