ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499301217
Gene: SIX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1049684
ClinVar RCV Id:
RCV001356116
RCV002476629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787071.3:p.Cys315Trp
CA406420877
NM_175875.5:c.945C>G