ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828060059
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167260
RCV001167197
RCV001167198
ClinVar Variation:
187525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ser463Thr
CA005341
NM_001362177.1:c.1388G>C