ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413135
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411230
ClinVar RCV Id:
RCV000459301
RCV002429539
RCV004001895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Val277Ala
CA16612648
NM_000368.5:c.830T>C