ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741977927
Gene: TOR3A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071766.2:p.Leu248Phe
CA343537780
NM_022371.4:c.742C>T