Canonical Allele Identifier: PA2742037508
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 3028648
ClinVar RCV Id: RCV003890513
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Glu4629Asp
CA344841544
NM_206933.4:c.13887G>T
CA344841547
NM_206933.4:c.13887G>C