ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954056
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466012
ClinVar RCV Id:
RCV000525235
RCV001010403
RCV003424114
RCV003999185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Leu41Phe
CA027330
NM_001162426.2:c.121C>T