ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825919106
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534470
ClinVar RCV Id:
RCV000642040
RCV002440290
RCV003313121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Gln955Arg
CA375368832
NM_001162426.2:c.2864A>G