ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956730
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411280
ClinVar RCV Id:
RCV000469642
RCV002418418
RCV004001909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Asp624Asn
CA16612762
NM_001162427.2:c.1870G>A