ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825575631
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055075
RCV000644377
RCV002453368
ClinVar Variation:
64875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala1161Val
CA019204
NM_001114382.3:c.3482C>T