ClinGen Allele Registry
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Canonical Allele Identifier:
PA262529
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
58409
ClinVar RCV:
RCV000042506
RCV002513616
ClinVar Variation:
49247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr1071Arg
CA018689
NM_000548.5:c.3212C>G