ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413495
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000424313
RCV000556341
RCV001018495
RCV003996015
ClinVar Variation:
379061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Ala1026Thr
CA035755
NM_000368.5:c.3076G>A