ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828419370
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64856
ClinVar RCV Id:
RCV000055056
RCV000472588
RCV001019643
RCV001545684
RCV002496735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ser1051Leu
CA018808
NM_001370405.1:c.3152C>T