ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059682
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237699
ClinVar RCV Id:
RCV000407254
RCV000726384
RCV001081666
RCV001010703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Asp305Tyr
CA027960
NM_001362177.1:c.913G>T