ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828411108
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000444336
RCV001221267
RCV002318425
RCV004000390
ClinVar Variation:
383175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.His435Tyr
CA029254
NM_001370404.1:c.1303C>T