ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764069
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166466
ClinVar RCV Id:
RCV000152588
RCV000671038
RCV001307268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ser2998Cys
CA179529
NM_206933.4:c.8993C>G