ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955317
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466158
ClinVar RCV Id:
RCV000525964
RCV003153711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Ala232Val
CA375369249
NM_001162427.2:c.695C>T