Canonical Allele Identifier: PA1139764560
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48358
ClinVar RCV Id: RCV000041679 RCV000513386 RCV001197373
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro3590Leu
CA143231
NM_206933.4:c.10769C>T