ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264346
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64837
ClinVar RCV Id:
RCV000055032
RCV003480047
RCV002513716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Phe158Ser
CA007609
NM_000368.5:c.473T>C