ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829979192
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468020
ClinVar RCV Id:
RCV000534200
RCV001574195
RCV002258956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1133Ser
CA394289363
NM_021055.3:c.3397C>T