ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825918636
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48931
ClinVar RCV Id:
RCV000042182
RCV000130869
RCV000189820
RCV000270998
RCV000713909
RCV001083830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Asn761Ser
CA006241
NM_001162426.2:c.2282A>G