ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006190
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
184114
ClinVar RCV:
RCV000167112
RCV000233190
RCV001721086
RCV003995559
ClinVar Variation:
187388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala161Val
CA022710
NM_001318829.2:c.482C>T