ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319399
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207693
ClinVar RCV Id:
RCV000462184
RCV002336505
RCV001721233
RCV003996873
RCV004539758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Asn1707Ser
CA054000
NM_000548.5:c.5120A>G