ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573162988
Gene: TOR1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000104.1:p.Lys320Glu
CA375197408
NM_000113.3:c.958A>G