ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980329
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_066399.2:p.Gly1313Asp
CA050325
NM_021055.3:c.3938G>A