ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826648241
Gene: USH1G
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48126
ClinVar RCV Id:
RCV000041414
RCV000724716
RCV001123313
RCV004541211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269418.1:p.Leu317Val
CA142646
NM_001282489.3:c.949C>G