ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020663
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055369
RCV001342211
RCV002336203
ClinVar Variation:
65153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val1617Phe
CA021508
NM_001318832.2:c.4849G>T