ClinGen Allele Registry
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Canonical Allele Identifier:
PA916022998
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
59220
ClinVar RCV:
RCV000043324
RCV001042713
RCV002321537
RCV003313034
ClinVar Variation:
50058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser851Asn
CA018827
NM_001318831.2:c.2552G>A