ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825434671
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238090
ClinVar RCV Id:
RCV000230979
RCV001025142
RCV003469154
RCV003998842
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser211Phe
CA10583283
NM_001077183.3:c.632C>T