ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825918318
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000469642
RCV002418418
RCV004001909
ClinVar Variation:
411280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Asp674Asn
CA16612762
NM_001162426.2:c.2020G>A