Canonical Allele Identifier: PA1139762947
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 877053
ClinVar RCV Id: RCV001102478 RCV001102479 RCV001295995 RCV003449562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Arg1295Leu
CA1395882
NM_206933.4:c.3884G>T