Canonical Allele Identifier: PA1139765335
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48440
ClinVar RCV Id: RCV000041763 RCV000665634 RCV001034422 RCV001272933 RCV001579147 RCV003887899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Thr4839Met
CA143356
NM_206933.4:c.14516C>T