ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827011840
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000226848
RCV001019293
RCV003480561
ClinVar Variation:
238015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Val981Met
CA044793
NM_001318829.2:c.2941G>A