ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016393
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449584
ClinVar RCV Id:
RCV000519477
RCV002527581
RCV003159666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Asn1487Asp
CA394314156
NM_001318831.2:c.4459A>G