ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002058
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000228760
RCV003153525
RCV003165605
ClinVar Variation:
237975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala638Thr
CA10583300
NM_001318827.2:c.1912G>A