ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671587
Gene: TOR1AIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254507.1:p.Arg195Cys
CA1268844
NM_001267578.2:c.583C>T