ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139762494
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179114
ClinVar RCV Id:
RCV000155899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly743Val
CA183760
NM_206933.4:c.2228G>T