ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828419829
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2497442
ClinVar RCV Id:
RCV003213897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Pro1184_Leu1185del
CA2580091013
NM_001370405.1:c.3551_3556del