ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139762774
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848666
ClinVar RCV Id:
RCV001052474
RCV001271232
RCV003455230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Pro1076Ser
CA1396048
NM_206933.4:c.3226C>T