ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827011232
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230979
RCV001025142
RCV003469154
RCV003998842
ClinVar Variation:
238090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser11Phe
CA10583283
NM_001318831.2:c.32C>T