ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825572847
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238099
ClinVar RCV Id:
RCV000226007
RCV001019379
RCV001770191
RCV003998846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro316Gln
CA056703
NM_001114382.3:c.947C>A