ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829972229
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_066399.2:p.Leu309Phe
CA394315433
NM_021055.3:c.925C>T