ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825956012
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41690
ClinVar RCV Id:
RCV000034602
RCV000054845
RCV000189811
RCV000319085
RCV000568490
RCV000761004
RCV001085737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ser436Cys
CA004868
NM_001162427.2:c.1307C>G