Canonical Allele Identifier: PA1139763664
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48569
ClinVar RCV Id: RCV000041895 RCV001210033 RCV001274250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro2241Ser
CA143572
NM_206933.4:c.6721C>T