ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827003480
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390104
ClinVar RCV Id:
RCV000438616
RCV003766401
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro1078Ala
CA046994
NM_001318827.2:c.3232C>G