ClinGen Allele Registry
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Canonical Allele Identifier:
PA658659614
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
459111
ClinVar RCV:
RCV000534300
RCV001195754
RCV001545105
RCV002257807
RCV003999189
ClinVar Variation:
466025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Gly443Val
CA375366083
NM_000368.5:c.1328G>T