ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659914
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486587
ClinVar RCV Id:
RCV000574531
RCV001205610
RCV000602459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro1138His
CA036822
NM_000368.5:c.3413C>A