ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319488
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207735
ClinVar RCV Id:
RCV000190007
RCV001016513
RCV001086210
RCV003996889
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn919Ser
CA041783
NM_000548.5:c.2756A>G