ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978491
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000221766
RCV001341323
RCV002251447
ClinVar Variation:
233995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1051Trp
CA045126
NM_021055.3:c.3152C>G