ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688044
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Val216Gly
CA344902144
NM_007123.6:c.647T>G