ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577405
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_001107854.1:p.Val1676Met
CA053941
NM_001114382.3:c.5026G>A