ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006970
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000478401
RCV000691424
RCV003343855
RCV003470587
ClinVar Variation:
423778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser445Phe
CA030798
NM_001318829.2:c.1334C>T