ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139675601
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847781
ClinVar RCV Id:
RCV001051397
RCV002339257
RCV003467763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1617Thr
CA394308162
NM_000548.5:c.4849G>A