ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830515943
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3187069
ClinVar RCV Id:
RCV004484433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Phe1094Ile
CA344862388
NM_206933.4:c.3280T>A