Canonical Allele Identifier: PA2573101876
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 552332
ClinVar RCV Id: RCV000667571 RCV001003275 RCV001100918 RCV001592848 RCV003451659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro1059Leu
CA1396060
NM_206933.4:c.3176C>T