ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101929
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438028
ClinVar RCV Id:
RCV000504749
RCV001376219
RCV002527328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Pro2762Ala
CA344832484
NM_206933.4:c.8284C>G