ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829976712
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034649
RCV000054857
RCV000163390
RCV000176271
RCV000989426
ClinVar Variation:
41732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu826Met
CA017492
NM_021055.3:c.2476C>A