ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439941
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207692
ClinVar RCV Id:
RCV000189942
RCV000473026
RCV000570790
RCV003996872
RCV004537592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Val1632Met
CA053941
NM_001077183.3:c.4894G>A