ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828091310
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406006
ClinVar RCV Id:
RCV000571306
RCV000460751
RCV004000693
RCV003470408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Val534Gly
CA16615042
NM_001363528.2:c.1601T>G