ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573265789
Gene: SATB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001898085
ClinVar Variation:
1389814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056080.1:p.Val427Ala
CA350386360
NM_015265.3:c.1280T>C