ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827001983
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055529
RCV000122212
RCV000234257
RCV000564486
RCV001703965
ClinVar Variation:
65307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Lys621Thr
CA016374
NM_001318827.2:c.1862A>C