ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828091852
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406039
ClinVar RCV Id:
RCV000457153
RCV000568724
RCV000765267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Pro672Leu
CA16615063
NM_001363528.2:c.2015C>T