ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829978521
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405953
ClinVar RCV Id:
RCV000575419
RCV000468858
RCV001567190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1055Leu
CA045588
NM_021055.3:c.3164C>T