ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825917731
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411263
ClinVar RCV Id:
RCV000761012
RCV001011148
RCV000470038
RCV001591099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gly451Ala
CA028454
NM_001162426.2:c.1352G>C