ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003490
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64875
ClinVar RCV Id:
RCV000055075
RCV000644377
RCV002453368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala1081Val
CA019204
NM_001318827.2:c.3242C>T