ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340354
Gene: TOR1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000104.1:p.Glu303del
CA340352
NM_000113.3:c.907_909del