ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139764085
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227148
ClinVar RCV Id:
RCV000218151
RCV001276961
RCV004541321
RCV000766324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg3037His
CA1394400
NM_206933.4:c.9110G>A