ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499305558
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ile4283Thr
CA344848747
NM_206933.4:c.12848T>C