ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659856
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000564806
RCV000642049
RCV003237943
RCV003945355
ClinVar Variation:
486561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Gly1036Glu
CA035815
NM_000368.5:c.3107G>A