ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828417869
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49721
ClinVar RCV Id:
RCV000042985
RCV002514169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala614Asp
CA016019
NM_001370405.1:c.1841C>A