Canonical Allele Identifier: PA1139763037
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48520
ClinVar RCV Id: RCV000041846 RCV000270447 RCV000324312 RCV000513149 RCV001073300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Lys1529Ile
CA143494
NM_206933.4:c.4586A>T