ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978497
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50058
ClinVar RCV Id:
RCV000043324
RCV001042713
RCV002321537
RCV003313034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1052Asn
CA018827
NM_021055.3:c.3155G>A