ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829833916
Gene: TOR1AIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056417.2:p.Arg194Cys
CA1268844
NM_015602.4:c.580C>T