ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573549
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000460751
RCV000571306
RCV003470408
RCV004000693
ClinVar Variation:
406006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val534Gly
CA16615042
NM_001114382.3:c.1601T>G