ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104962
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2914
ClinVar RCV Id:
RCV000003048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Leu48Pro
CA252487
NM_173477.5:c.143T>C