ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007527
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65383
ClinVar RCV Id:
RCV000055611
RCV000189898
RCV000204401
RCV000567608
RCV004542724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro621Leu
CA016425
NM_001318829.2:c.1862C>T