ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139763324
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly1840Val
CA344855822
NM_206933.4:c.5519G>T