ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827009687
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432500
ClinVar RCV Id:
RCV000497607
RCV001022632
RCV001078813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser1392Phe
CA394302786
NM_001318829.2:c.4175C>T