ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139762495
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys759Phe
CA252233
NM_206933.4:c.2276G>T