ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013639
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207671
ClinVar RCV Id:
RCV000189907
RCV000525436
RCV001015274
RCV003462291
RCV003996866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Val606Met
CA319361
NM_001318831.2:c.1816G>A