ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019018
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135380
ClinVar RCV Id:
RCV000122224
RCV000820253
RCV001020564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr1148Met
CA019264
NM_001318832.2:c.3443C>T