ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012598
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001359632
RCV001704636
RCV002402406
ClinVar Variation:
421682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ile331Met
CA16620088
NM_001318831.2:c.993C>G