ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016607
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
401725
ClinVar RCV:
RCV000471005
RCV000562164
RCV000610568
RCV003392272
RCV004000682
ClinVar Variation:
405968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr1536Ile
CA055164
NM_001318831.2:c.4607C>T