ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438271
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
380381
ClinVar RCV Id:
RCV000426687
RCV003626619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1322Ser
CA16607165
NM_001077183.3:c.3964C>T