ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007536
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406039
ClinVar RCV Id:
RCV000457153
RCV000568724
RCV000765267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro623Leu
CA16615063
NM_001318829.2:c.1868C>T