ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827001503
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000460751
RCV000571306
RCV003470408
RCV004000693
ClinVar Variation:
406006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val497Gly
CA16615042
NM_001318827.2:c.1490T>G