ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829981383
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000470481
RCV000517116
RCV000562149
RCV004000719
ClinVar Variation:
406105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1443Val
CA051222
NM_021055.3:c.4328C>T