ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023856
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535969
ClinVar RCV Id:
RCV000644214
RCV001087283
RCV002449027
RCV004004015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val777Ala
CA038262
NM_001318832.2:c.2330T>C