ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319468
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207726
ClinVar RCV Id:
RCV000189995
RCV000563688
RCV001086435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr746Ile
CA037685
NM_000548.5:c.2237C>T