ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828091080
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207715
ClinVar RCV Id:
RCV000189980
RCV000549657
RCV003380512
RCV003996883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Val461Met
CA319441
NM_001363528.2:c.1381G>A