ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094846
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468115
ClinVar RCV Id:
RCV002330908
RCV000547996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Tyr1542Cys
CA052633
NM_001363528.2:c.4625A>G