ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658681217
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000533905
RCV001022339
RCV003999315
ClinVar Variation:
468085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1451Gly
CA050943
NM_000548.5:c.4351C>G