ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828411932
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467912
ClinVar RCV Id:
RCV000526190
RCV001577413
RCV001013916
RCV003999262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Leu663Phe
CA035428
NM_001370404.1:c.1987C>T