ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201907
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.2:p.Leu1648Pro
CA344859791
NM_206933.3:c.4943T>C