ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825577487
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65216
ClinVar RCV Id:
RCV000055435
RCV000468508
RCV000572428
RCV003162430
RCV003996480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala1696Thr
CA021901
NM_001114382.3:c.5086G>A