ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101967
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438007
ClinVar RCV Id:
RCV000504791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Pro4232Gln
CA344849798
NM_206933.4:c.12695C>A