ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825572924
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535974
ClinVar RCV Id:
RCV000644222
RCV001017006
RCV004533366
RCV004004017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val339Ile
CA276776626
NM_001114382.3:c.1015G>A