ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827017234
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
59058
ClinVar RCV:
RCV000043163
RCV000478154
ClinVar Variation:
49896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Cys255Arg
CA022889
NM_001318832.2:c.763T>C