ClinGen Allele Registry
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Canonical Allele Identifier:
PA645432031
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000226536
RCV002282073
RCV002399815
RCV003998805
ClinVar Variation:
237969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser538Phe
CA10583296
NM_000548.5:c.1613C>T