ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580388869
Gene: SATB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2002401
ClinVar RCV:
RCV002658673
ClinVar Variation:
1946123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056080.1:p.Val323Ile
CA2045981
NM_015265.3:c.967G>A