ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827018602
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000402137
RCV000698685
RCV003298377
ClinVar Variation:
318325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu1033Phe
CA10648022
NM_001318832.2:c.3097C>T