ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007480
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65307
ClinVar RCV Id:
RCV000055529
RCV000122212
RCV000234257
RCV000564486
RCV001703965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Lys609Thr
CA016374
NM_001318829.2:c.1826A>C