ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827004377
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001070860
RCV004000195
ClinVar Variation:
863806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro1341Ser
CA394301401
NM_001318827.2:c.4021C>T