ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413159
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411287
ClinVar RCV Id:
RCV000461709
RCV000781950
RCV001019502
RCV001696878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Leu320del
CA5301770
NM_000368.5:c.957_959del