ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830359215
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1470629
ClinVar RCV Id:
RCV001964273
RCV002571290
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Pro200Leu
CA8754037
NM_173477.5:c.599C>T