ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829979933
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034653
RCV000054864
RCV000122229
RCV000129666
RCV000231518
ClinVar Variation:
41736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1254Thr
CA019668
NM_021055.3:c.3760G>A