Canonical Allele Identifier: PA1139762718
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48495
ClinVar RCV Id: RCV000041821 RCV000487811 RCV001097185 RCV001097184 RCV001578841
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.His1041Gln
CA143454
NM_206933.4:c.3123C>A
CA344862740
NM_206933.4:c.3123C>G