ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825918014
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186320
ClinVar RCV Id:
RCV000165896
RCV000468971
RCV001721075
RCV001818385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Ala561Gly
CA005191
NM_001162426.2:c.1682C>G