ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438306
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406078
ClinVar RCV Id:
RCV000465567
RCV002329033
RCV004000715
RCV003128805
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1334Ala
CA050641
NM_001077183.3:c.4000C>G