ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659380
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466037
ClinVar RCV Id:
RCV000558142
RCV002404457
RCV003999193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro56Ser
CA375375112
NM_000368.5:c.166C>T