ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197872
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187525
ClinVar RCV Id:
RCV000167260
RCV001167197
RCV001167198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Ser584Thr
CA005341
NM_000368.5:c.1751G>C