ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827002549
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467942
ClinVar RCV Id:
RCV000535705
RCV001015534
RCV003153712
RCV003999270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val776Met
CA039041
NM_001318827.2:c.2326G>A