ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828416435
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184186
ClinVar RCV Id:
RCV000163373
RCV000190050
RCV000765260
RCV001086110
RCV003995252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Asn187Ser
CA022534
NM_001370405.1:c.560A>G