ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016259
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189942
RCV000473026
RCV000570790
RCV003996872
RCV004537592
ClinVar Variation:
207692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val1455Met
CA053941
NM_001318831.2:c.4363G>A