ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319406
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207698
ClinVar RCV Id:
RCV000189956
RCV000233520
RCV002321769
RCV003996875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Val109Met
CA045030
NM_000548.5:c.325G>A