Canonical Allele Identifier: PA1139764910
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48406
ClinVar RCV Id: RCV000041729 RCV003389451 RCV003887890 RCV003450768
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Gly4247Arg
CA262080
NM_206933.4:c.12739G>A
CA344849468
NM_206933.4:c.12739G>C