Canonical Allele Identifier: PA1139763548
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 228218
ClinVar RCV Id: RCV000724908 RCV004020605 RCV004532748 RCV000220285 RCV001273038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ala2122Ser
CA1395161
NM_206933.4:c.6364G>T