ClinGen Allele Registry
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Canonical Allele Identifier:
PA658659860
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
475055
ClinVar RCV:
RCV000565729
RCV000642001
RCV004001135
ClinVar Variation:
486567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Ser1038Gly
CA035829
NM_000368.5:c.3112A>G