ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762124
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48373
ClinVar RCV Id:
RCV001852855
RCV002307376
RCV000041694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Tyr380Cys
CA143255
NM_206933.4:c.1139A>G