ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023039
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406072
ClinVar RCV Id:
RCV000456897
RCV001020136
RCV001618706
RCV004533165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg883Trp
CA046408
NM_001318831.2:c.2647C>T