ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015013
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230897
RCV003165606
RCV003998826
ClinVar Variation:
238040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Glu1107Lys
CA10583329
NM_001318831.2:c.3319G>A