Canonical Allele Identifier: PA2573101560
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 555114
ClinVar RCV Id: RCV000670865 RCV001868248 RCV003453313 RCV003453314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala416Ser
CA1396565
NM_206933.4:c.1246G>T