ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007516
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1425749
ClinVar RCV Id:
RCV001926881
RCV004010909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro617Ser
CA394274426
NM_001318829.2:c.1849C>T