ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829983308
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49352
ClinVar RCV Id:
RCV000042612
RCV000190040
RCV001797601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu1674Pro
CA021894
NM_021055.3:c.5021T>C