ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827016189
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486644
ClinVar RCV Id:
RCV000567505
RCV001065808
RCV001764691
RCV003465277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Asn1437Asp
CA394311437
NM_001318831.2:c.4309A>G