ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023617
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207663
ClinVar RCV Id:
RCV000644256
RCV001012959
RCV001705065
RCV003996865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr595Met
CA033300
NM_001318832.2:c.1784C>T