ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA143608
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.2:p.Val2562Ala
CA143607
NM_206933.3:c.7685T>C