ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264326
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64815
ClinVar RCV Id:
RCV000055006
RCV001013706
RCV000555785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro641His
CA005606
NM_000368.5:c.1922C>A