ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981439
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49491
ClinVar RCV Id:
RCV000042751
RCV002326760
RCV003511986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1454Arg
CA020517
NM_021055.3:c.4361C>G