ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319514
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207745
ClinVar RCV Id:
RCV000468447
RCV001721236
RCV001020274
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asp1143Val
CA319512
NM_000548.5:c.3428A>T