ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983346
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055435
RCV000468508
RCV000572428
RCV003162430
RCV003996480
ClinVar Variation:
65216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1676Thr
CA021901
NM_021055.3:c.5026G>A