ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827001898
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135373
ClinVar RCV Id:
RCV000122210
RCV001013672
RCV000807299
RCV003997362
RCV004542921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val601Met
CA016199
NM_001318827.2:c.1801G>A