ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102001
Gene: USH2A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_996816.3:p.Val164Phe
NM_206933.4:c.490G>T