ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264268
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64745
ClinVar RCV Id:
RCV000054927
RCV001020306
RCV001084718
RCV000831184
RCV003398644
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Asp1146Tyr
CA007378
NM_000368.5:c.3436G>T