ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978326
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000491778
RCV000542621
RCV001577170
RCV004003437
ClinVar Variation:
428000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr1027Met
CA044749
NM_021055.3:c.3080C>T