ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891844889
Gene: TOR1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
576253
ClinVar RCV Id:
RCV000698711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000104.1:p.Lys317Glu
CA375197448
NM_000113.3:c.949A>G