ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805054
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535906
ClinVar RCV Id:
RCV000644133
RCV001019823
RCV001756075
RCV003459536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val1102Met
CA045672
NM_000548.5:c.3304G>A