ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987021
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64817
ClinVar RCV Id:
RCV000055009
RCV000217275
RCV000642024
RCV000725515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro362Ser
CA004402
NM_001162426.2:c.1084C>T