ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828415267
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12393
ClinVar RCV Id:
RCV000013201
RCV000043065
RCV000055436
RCV000493720
RCV002345240
RCV002496339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro1631Leu
CA021526
NM_001370404.1:c.4892C>T