Canonical Allele Identifier: PA1139762335
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48472
ClinVar RCV Id: RCV000041795 RCV001003284 RCV000415970 RCV001101110 RCV001376290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu555Val
CA143415
NM_206933.4:c.1663C>G