ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827010002
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318332
ClinVar RCV Id:
RCV000330059
RCV000415620
RCV002338901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp1497Asn
CA10637331
NM_001318829.2:c.4489G>A