ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023013
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000130032
RCV000836828
RCV001087672
RCV003997543
ClinVar Variation:
141482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala864Val
CA018885
NM_001318831.2:c.2591C>T