ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012904
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486600
ClinVar RCV Id:
RCV000570537
RCV001369719
RCV003459405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ile410Val
CA394273002
NM_001318831.2:c.1228A>G