ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104962
Gene: USH1G
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_775748.2:p.Leu48Pro
NM_173477.5:c.143T>C