ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263159
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
59281
ClinVar RCV:
RCV000043386
RCV002273946
ClinVar Variation:
50119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu733Pro
CA016906
NM_000548.5:c.2198T>C