ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827009274
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65358
ClinVar RCV Id:
RCV000055582
RCV000575789
RCV000731274
RCV001083321
RCV004537249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser1264Leu
CA019991
NM_001318829.2:c.3791C>T