ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022996
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_001305760.1:p.Ser850Trp
CA045126
NM_001318831.2:c.2549C>G