ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764622
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
967042
ClinVar RCV Id:
RCV001241857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Glu416Lys
CA400961373
NM_173477.5:c.1246G>A