ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825577847
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450528
ClinVar RCV Id:
RCV000522751
RCV000644277
RCV001024028
RCV004003612
RCV004541631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ser1776Leu
CA055299
NM_001114382.3:c.5327C>T