ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439453
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055435
RCV000468508
RCV000572428
RCV003162430
RCV003996480
ClinVar Variation:
65216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala1652Thr
CA021901
NM_001077183.3:c.4954G>A