ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827010118
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49335
ClinVar RCV Id:
RCV000042595
RCV000359328
RCV000543686
RCV002336159
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asn1536Ser
CA021383
NM_001318829.2:c.4607A>G