ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828417002
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207710
ClinVar RCV Id:
RCV000189974
RCV000754678
RCV000812345
RCV002257481
RCV003462292
RCV003996880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu361Val
CA319427
NM_001370405.1:c.1081C>G