ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980657
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406078
ClinVar RCV Id:
RCV000465567
RCV002329033
RCV004000715
RCV003128805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1358Ala
CA050641
NM_021055.3:c.4072C>G