ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827001194
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207713
ClinVar RCV Id:
RCV000189978
RCV000572652
RCV001085727
RCV003468874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro399Leu
CA319435
NM_001318827.2:c.1196C>T