ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828421277
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000594599
RCV001852204
ClinVar Variation:
197025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.His1597Pro
CA021276
NM_001370405.1:c.4790A>C