ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499228569
Gene: TOR1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000104.1:p.Arg288Leu
CA375197744
NM_000113.3:c.863G>T