ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043255
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411286
ClinVar RCV Id:
RCV000460091
RCV001025051
RCV003477986
RCV003942494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Met88Val
CA038277
NM_001362177.1:c.262A>G