ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016277
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49348
ClinVar RCV Id:
RCV000042608
RCV000441153
RCV000565772
RCV001079156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser1460Thr
CA021746
NM_001318831.2:c.4378T>A