ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829978349
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238015
ClinVar RCV Id:
RCV000226848
RCV001019293
RCV003480561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val1030Met
CA044793
NM_021055.3:c.3088G>A