ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006984
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
75916
ClinVar RCV:
RCV000055190
RCV000189888
RCV001853090
RCV002390202
RCV003480048
ClinVar Variation:
64986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Glu449Lys
CA014970
NM_001318829.2:c.1345G>A