Canonical Allele Identifier: PA1139764841
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48400
ClinVar RCV Id: RCV000041722 RCV000767175 RCV001075259 RCV001274932 RCV004537148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ile4186Thr
CA143292
NM_206933.4:c.12557T>C