ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825572378
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
952666
ClinVar RCV Id:
RCV001224818
RCV002339603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Asp169Asn
CA394309180
NM_001114382.3:c.505G>A