ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827003708
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2497442
ClinVar RCV Id:
RCV003213897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro1147_Leu1148del
CA2580091013
NM_001318827.2:c.3440_3445del