ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016861
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055443
RCV000573567
RCV000989413
RCV001555447
ClinVar Variation:
65223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg109Trp
CA018319
NM_001318832.2:c.325C>T