ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825572358
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
530095
ClinVar RCV:
RCV000644082
RCV001023148
RCV004003989
ClinVar Variation:
535868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Asp162Asn
CA394309028
NM_001114382.3:c.484G>A