Canonical Allele Identifier: PA2573101614
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48347
ClinVar RCV Id: RCV000041668 RCV000710349 RCV000727128 RCV001074772 RCV000411779 RCV001723627 RCV000824797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn346His
CA262054
NM_206933.4:c.1036A>C