Canonical Allele Identifier: PA1139764106
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48614
ClinVar RCV Id: RCV000041940 RCV000416029 RCV001810414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Val3068Ala
CA143646
NM_206933.4:c.9203T>C