ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825574028
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000463315
RCV001013872
RCV004000685
ClinVar Variation:
405983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Lys657Gln
CA035326
NM_001114382.3:c.1969A>C