ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142671
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48139
ClinVar RCV Id:
RCV000041427
RCV000432648
RCV001127509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Pro28Leu
CA142670
NM_173477.5:c.83C>T