ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828415203
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000469448
RCV001023350
ClinVar Variation:
406065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Lys1614Arg
CA16615040
NM_001370404.1:c.4841A>G