ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020735
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000042701
RCV000822377
RCV002336160
ClinVar Variation:
49441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Lys1633Glu
CA021601
NM_001318832.2:c.4897A>G