ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435264
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000469448
RCV001023350
ClinVar Variation:
406065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Lys1658Arg
CA16615040
NM_000548.5:c.4973A>G