ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827010784
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135378
ClinVar RCV Id:
RCV000122219
RCV000810100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val150Leu
CA022614
NM_001318829.2:c.448G>C