ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013655
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000535705
RCV001015534
RCV003153712
RCV003999270
ClinVar Variation:
467942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val613Met
CA039041
NM_001318831.2:c.1837G>A