ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829984116
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449819
ClinVar RCV Id:
RCV001023976
RCV001204908
RCV001696827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Tyr1745Cys
CA055219
NM_021055.3:c.5234A>G