ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826066948
Gene: SATB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3005174
ClinVar RCV Id:
RCV003868301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165980.1:p.Ile335Val
CA350387602
NM_001172509.2:c.1003A>G