ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828411975
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000644209
RCV002255485
RCV004004014
ClinVar Variation:
535965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro674Ser
CA035778
NM_001370404.1:c.2020C>T