ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762010
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179225
ClinVar RCV Id:
RCV000156012
RCV000673498
RCV001831971
RCV001731487
RCV003462061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg274Gln
CA183997
NM_206933.4:c.821G>A