Canonical Allele Identifier: PA1139765041
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48417
ClinVar RCV Id: RCV000505044 RCV000672135 RCV001004775 RCV001035021 RCV001272942
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro4466Ser
CA143316
NM_206933.4:c.13396C>T