ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659850
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466118
ClinVar RCV Id:
RCV000532264
RCV001018500
RCV001821552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg1027Trp
CA035767
NM_000368.5:c.3079C>T