ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023658
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055401
RCV002513720
RCV003380408
ClinVar Variation:
65184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala618Ser
CA015864
NM_001318832.2:c.1852G>T