ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433826
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406097
ClinVar RCV Id:
RCV000473934
RCV002323695
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser1334Asn
CA16615016
NM_000548.5:c.4001G>A