ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659684
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466054
ClinVar RCV Id:
RCV000545216
RCV001013813
RCV003419955
RCV003999201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Ala659Thr
CA200888114
NM_000368.5:c.1975G>A