ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023314
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468192
ClinVar RCV Id:
RCV000528235
RCV001019094
RCV001355181
RCV003999343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu320Phe
CA394315433
NM_001318832.2:c.958C>T