ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142647
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48126
ClinVar RCV Id:
RCV000041414
RCV000724716
RCV001123313
RCV004541211
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Leu420Val
CA142646
NM_173477.5:c.1258C>G