ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828417841
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41730
ClinVar RCV Id:
RCV000034647
RCV000054869
RCV000175145
RCV000163316
RCV000989422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala607Thr
CA015854
NM_001370405.1:c.1819G>A