ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264619
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65184
ClinVar RCV Id:
RCV000055401
RCV002513720
RCV003380408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala607Ser
CA015864
NM_000548.5:c.1819G>T