ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439539
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001023747
RCV001061035
RCV001772198
RCV004004640
ClinVar Variation:
825558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Trp1673Ser
CA394314459
NM_001077183.3:c.5018G>C