ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826067143
Gene: SATB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2848931
ClinVar RCV Id:
RCV003742149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165980.1:p.Pro576Ala
CA350384272
NM_001172509.2:c.1726C>G