ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007504
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000526190
RCV001013916
RCV001577413
RCV003999262
ClinVar Variation:
467912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu614Phe
CA035428
NM_001318829.2:c.1840C>T