ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828420724
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
530288
ClinVar RCV:
RCV000644143
RCV002331187
ClinVar Variation:
535914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Asn1445Ser
CA276753586
NM_001370405.1:c.4334A>G