ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580547916
Gene: SIX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2191559
ClinVar RCV Id:
RCV002632881
RCV004070604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787071.3:p.Ala307Thr
CA9520725
NM_175875.5:c.919G>A