ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003254
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000043324
RCV001042713
RCV002321537
RCV003313034
ClinVar Variation:
50058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ser1015Asn
CA018827
NM_001318827.2:c.3044G>A