ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987001
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000795024
RCV001009796
RCV001722439
RCV004003595
ClinVar Variation:
449149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Met355Val
CA375367734
NM_001162426.2:c.1063A>G