ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956791
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034605
RCV000163566
RCV001083067
RCV003996171
ClinVar Variation:
41693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg638His
CA005883
NM_001162427.2:c.1913G>A