ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954852
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000460091
RCV001025051
RCV003477986
RCV003942494
ClinVar Variation:
411286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Met209Val
CA038277
NM_001162426.2:c.625A>G