Canonical Allele Identifier: PA2573101879
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 546238
ClinVar RCV Id: RCV000658087 RCV004026021
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro1194Leu
CA1395962
NM_206933.4:c.3581C>T