ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108082
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49348
ClinVar RCV Id:
RCV000042608
RCV000441153
RCV000565772
RCV001079156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser1704Thr
CA021746
NM_000548.5:c.5110T>A