Canonical Allele Identifier: PA1139762859
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 295431
ClinVar RCV Id: RCV000356379 RCV000394505 RCV000611914 RCV000943840 RCV001578966
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro1178Ala
CA1395972
NM_206933.4:c.3532C>G