ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825434914
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000527430
RCV000568400
RCV004537594
ClinVar Variation:
207707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala289Val
CA056623
NM_001077183.3:c.866C>T