ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139762546
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000155332
RCV001051381
RCV001073261
RCV001804867
RCV001810429
ClinVar Variation:
178583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Asp778Tyr
CA182608
NM_206933.4:c.2332G>T