ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143495
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.5:p.Lys1529Ile
CA143494
NM_007123.5:c.4586A>T