ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576415
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318330
ClinVar RCV Id:
RCV000357832
RCV000461781
RCV000575927
RCV001548444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala1406Val
CA050774
NM_001114382.3:c.4217C>T