Canonical Allele Identifier: PA2573102110
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 493061
ClinVar RCV Id: RCV000585084 RCV001003256 RCV001269243 RCV001835857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4150Ala
CA344850876
NM_206933.4:c.12448A>G
CA916079398
NM_206933.4:c.[12448A>G;5012G>A]