ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013429
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189995
RCV000563688
RCV001086435
ClinVar Variation:
207726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr546Ile
CA037685
NM_001318831.2:c.1637C>T