ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829970393
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000468262
RCV000575026
RCV001705072
RCV003996890
ClinVar Variation:
207736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu51Ala
CA030988
NM_021055.3:c.152A>C