ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437975
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000325835
RCV000567501
RCV000726912
RCV001079391
RCV004532850
ClinVar Variation:
238031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu1240Lys
CA049623
NM_001077183.3:c.3718G>A