ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764761
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178977
ClinVar RCV Id:
RCV000155755
RCV000671917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg3941Gln
CA183417
NM_206933.4:c.11822G>A