ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008146
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042847
RCV000201152
RCV002433527
ClinVar Variation:
49586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala840Val
CA017841
NM_001318829.2:c.2519C>T