ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059743
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000470038
RCV000761012
RCV001011148
RCV001591099
ClinVar Variation:
411263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Gly331Ala
CA028454
NM_001362177.1:c.992G>C