ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980295
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034656
RCV000215282
RCV001081977
ClinVar Variation:
41739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1306Val
CA019876
NM_021055.3:c.3917C>T