ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012609
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406006
ClinVar RCV Id:
RCV000571306
RCV000460751
RCV004000693
RCV003470408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val334Gly
CA16615042
NM_001318831.2:c.1001T>G