ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319529
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207752
ClinVar RCV Id:
RCV000190029
RCV000644243
RCV001021792
RCV003996895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Gly1356Asp
CA050325
NM_000548.5:c.4067G>A