ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825572903
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65217
ClinVar RCV Id:
RCV000055437
RCV001730486
RCV002381358
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val334Ala
CA013517
NM_001114382.3:c.1001T>C