ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012895
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65184
ClinVar RCV Id:
RCV000055401
RCV002513720
RCV003380408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala407Ser
CA015864
NM_001318831.2:c.1219G>T