ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828413689
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_001357333.1:p.Pro1183_Leu1184del
CA2580091013
NM_001370404.1:c.3548_3553del