ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742022283
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2558091
ClinVar RCV Id:
RCV003295708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Asp252Tyr
CA293984263
NM_173477.5:c.754G>T