ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413525
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237716
ClinVar RCV Id:
RCV000229859
RCV001589171
RCV002321855
RCV003390983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Ser1042Asn
CA10582622
NM_000368.5:c.3125G>A