Canonical Allele Identifier: PA1139764783
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 862981
ClinVar RCV Id: RCV001069834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro4014Ser
CA344826841
NM_206933.4:c.12040C>T