ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659816
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466104
ClinVar RCV Id:
RCV000558701
RCV000608003
RCV001016839
RCV003999211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Tyr966His
CA034926
NM_000368.5:c.2896T>C