ClinGen Allele Registry
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Canonical Allele Identifier:
PA645388075
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.2:p.Asn827His
CA10576387
NM_206933.3:c.2479A>C