ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009306
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
374827
ClinVar RCV:
RCV000426687
RCV003626619
ClinVar Variation:
380381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1274Ser
CA16607165
NM_001318829.2:c.3820C>T